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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:impaired pupillary reflex
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Accession:MP:0006243 term browser browse the term
Definition:the pupil fails to constrict fully when exposed to bright light
Synonyms:exact_synonym: Marcus-Gunn pupil;   abnormal pupil dilation reaction to light


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impaired pupillary reflex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial IEA MGI NCBI chr17:45,817,473...45,831,769
Ensembl chr17:45,817,767...45,831,769 		JBrowse link
G Adam32 a disintegrin and metallopeptidase domain 32 IEA MGI NCBI chr 8:25,326,159...25,438,933
Ensembl chr 8:25,326,156...25,438,820 		JBrowse link
G Ap1s2 adaptor-related protein complex 1, sigma 2 subunit IEA MGI NCBI chr  X:162,691,427...162,716,662
Ensembl chr  X:162,692,013...162,716,662 		JBrowse link
G Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 IEA MGI NCBI chr18:38,105,676...38,132,583
Ensembl chr18:38,105,681...38,132,022 		JBrowse link
G Arr3 arrestin 3, retinal IEA MGI NCBI chr  X:99,649,086...99,662,099
Ensembl chr  X:99,649,103...99,662,099 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase IEA MGI NCBI chr 3:88,857,721...88,986,682
Ensembl chr 3:88,857,929...88,986,682 		JBrowse link
G Cep126 centrosomal protein 126 IEA MGI NCBI chr 9:8,076,461...8,134,473
Ensembl chr 9:8,076,462...8,134,295 		JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3, cardiac IAGP MGI PMID:27534441 NCBI chr13:9,925,522...10,411,131
Ensembl chr13:9,925,522...10,410,883 		JBrowse link
G Chrna3 cholinergic receptor, nicotinic, alpha polypeptide 3 IAGP MGI PMID:10318955 NCBI chr 9:54,917,401...54,933,846
Ensembl chr 9:54,917,395...54,933,846 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit IAGP MGI PMID:10531434 NCBI chr 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		JBrowse link
G Chrnb4 cholinergic receptor, nicotinic, beta polypeptide 4 IAGP MGI PMID:10531434 NCBI chr 9:54,935,438...54,956,236
Ensembl chr 9:54,935,438...54,956,063 		JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 IAGP MGI PMID:12808468 NCBI chr 1:37,257,317...37,302,465
Ensembl chr 1:37,253,515...37,302,465 		JBrowse link
G Cog7 component of oligomeric golgi complex 7 IEA MGI NCBI chr 7:121,522,059...121,580,940
Ensembl chr 7:121,478,586...121,580,934 		JBrowse link
G Cry1 cryptochrome circadian regulator 1 IAGP MGI PMID:12522242 NCBI chr10:84,967,564...85,020,918
Ensembl chr10:84,967,564...85,020,928 		JBrowse link
G Cry2 cryptochrome circadian regulator 2 IAGP MGI PMID:12522242 NCBI chr 2:92,233,991...92,264,426
Ensembl chr 2:92,233,991...92,264,388 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 IEA MGI NCBI chr 9:72,863,574...72,880,971
Ensembl chr 9:72,866,067...72,880,346 		JBrowse link
G Eef1akmt2 EEF1A lysine methyltransferase 2 IEA MGI NCBI chr 7:132,429,186...132,454,376
Ensembl chr 7:132,429,186...132,454,402 		JBrowse link
G Efna4 ephrin A4 IEA MGI NCBI chr 3:89,240,700...89,245,335
Ensembl chr 3:89,240,697...89,245,335 		JBrowse link
G Elavl1 ELAV like RNA binding protein 1 IEA MGI NCBI chr 8:4,334,781...4,375,104
Ensembl chr 8:4,335,382...4,375,413 		JBrowse link
G Elovl5 ELOVL fatty acid elongase 5 IEA MGI NCBI chr 9:77,824,647...77,891,801
Ensembl chr 9:77,824,646...77,891,801 		JBrowse link
G Enpp5 ectonucleotide pyrophosphatase/phosphodiesterase 5 IEA MGI NCBI chr17:44,389,693...44,397,458
Ensembl chr17:44,389,704...44,397,458 		JBrowse link
G Fgf10 fibroblast growth factor 10 IEA MGI NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Fgf7 fibroblast growth factor 7 IEA MGI NCBI chr 2:125,876,578...125,933,105
Ensembl chr 2:125,876,578...125,933,105 		JBrowse link
G Fndc3a fibronectin type III domain containing 3A IEA MGI NCBI chr14:72,775,388...72,948,141
Ensembl chr14:72,775,386...72,947,443 		JBrowse link
G Fzd4 frizzled class receptor 4 IAGP MGI PMID:19837032 NCBI chr 7:89,053,574...89,062,341
Ensembl chr 7:89,053,563...89,062,342 		JBrowse link
G Glyr1 glyoxylate reductase 1 homolog (Arabidopsis) IEA MGI NCBI chr16:4,831,766...4,867,780
Ensembl chr16:4,831,773...4,867,727 		JBrowse link
G Gm572 predicted gene 572 IEA MGI NCBI chr 4:148,727,774...148,761,562
Ensembl chr 4:148,727,774...148,756,029 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 IAGP MGI PMID:12808468 NCBI chr 9:107,551,636...107,556,833
Ensembl chr 9:107,551,673...107,556,911 		JBrowse link
G Grm6 glutamate receptor, metabotropic 6 IEA MGI NCBI chr11:50,741,205...50,757,035
Ensembl chr11:50,741,512...50,757,035 		JBrowse link
G Gspt2 G1 to S phase transition 2 IEA MGI NCBI chr  X:93,679,675...93,682,168
Ensembl chr  X:93,679,675...93,686,850 		JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:18545654 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294 		JBrowse link
G Hpse2 heparanase 2 IEA MGI NCBI chr19:42,774,980...43,376,913
Ensembl chr19:42,774,978...43,376,794 		JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 IEA MGI NCBI chr18:80,272,154...80,293,329
Ensembl chr18:80,272,973...80,290,317 		JBrowse link
G Ints10 integrator complex subunit 10 IEA MGI NCBI chr 8:69,245,729...69,282,062
Ensembl chr 8:69,246,581...69,284,319 		JBrowse link
G Irgc immunity related GTPase cinema IEA MGI NCBI chr 7:24,131,344...24,145,107
Ensembl chr 7:24,131,347...24,151,722 		JBrowse link
G Kif5a kinesin family member 5A IEA MGI NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217 		JBrowse link
G Lbr lamin B receptor IEA MGI NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611 		JBrowse link
G Lpcat1 lysophosphatidylcholine acyltransferase 1 IEA MGI NCBI chr13:73,615,332...73,664,539
Ensembl chr13:73,615,316...73,664,541 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 IEA MGI NCBI chr 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		JBrowse link
G Mitf melanogenesis associated transcription factor IEA MGI NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Mrpl22 mitochondrial ribosomal protein L22 IEA MGI NCBI chr11:58,060,850...58,070,406
Ensembl chr11:58,062,487...58,070,391 		JBrowse link
G Msn moesin IEA MGI NCBI chr  X:95,139,651...95,212,159
Ensembl chr  X:95,139,648...95,212,158 		JBrowse link
G Mtmr3 myotubularin related protein 3 IEA MGI NCBI chr11:4,430,867...4,544,863
Ensembl chr11:4,430,867...4,544,863 		JBrowse link
G Myo10 myosin X IEA MGI NCBI chr15:25,622,636...25,813,759
Ensembl chr15:25,622,611...25,813,759 		JBrowse link
G Myo7a myosin VIIA IAGP MGI PMID:31824252 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Ncald neurocalcin delta IEA MGI NCBI chr15:37,366,419...37,792,816
Ensembl chr15:37,366,419...37,792,814 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 IAGP MGI PMID:27207593 NCBI chr 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659 		JBrowse link
G Nsun5 NOL1/NOP2/Sun domain family, member 5 IEA MGI NCBI chr 5:135,398,784...135,405,661
Ensembl chr 5:135,398,807...135,405,659 		JBrowse link
G Ntaq1 N-terminal glutamine amidase 1 IEA MGI NCBI chr15:58,004,730...58,022,050
Ensembl chr15:58,004,773...58,022,061 		JBrowse link
G Opn4 opsin 4 (melanopsin) IAGP MGI PMID:12808468 PMID:18432195 PMID:18545654 PMID:21765429 NCBI chr14:34,312,575...34,322,099
Ensembl chr14:34,312,575...34,322,099 		JBrowse link
G Orc6 origin recognition complex, subunit 6 IEA MGI NCBI chr 8:86,026,261...86,034,908
Ensembl chr 8:86,026,261...86,034,907 		JBrowse link
G Pax6 paired box 6 IAGP MGI PMID:19563798 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide IAGP MGI PMID:12522242 PMID:18545654 NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 IEA MGI NCBI chr17:47,022,402...47,036,469
Ensembl chr17:47,022,389...47,036,467 		JBrowse link
G Phox2b paired-like homeobox 2b IAGP MGI PMID:15150159 NCBI chr 5:67,251,751...67,256,399
Ensembl chr 5:67,251,742...67,256,644 		JBrowse link
G Plxna4 plexin A4 IEA MGI NCBI chr 6:32,121,478...32,565,127
Ensembl chr 6:32,121,203...32,565,127 		JBrowse link
G Pou4f2 POU domain, class 4, transcription factor 2 IAGP MGI PMID:19323995 PMID:21765429 NCBI chr 8:79,159,638...79,163,276
Ensembl chr 8:79,159,639...79,163,274 		JBrowse link
G Ptcd3 pentatricopeptide repeat domain 3 IEA MGI NCBI chr 6:71,857,622...71,886,080
Ensembl chr 6:71,857,622...71,885,734 		JBrowse link
G Ric8a RIC8 guanine nucleotide exchange factor A IEA MGI NCBI chr 7:140,437,310...140,443,644
Ensembl chr 7:140,436,870...140,444,285 		JBrowse link
G Rpl24 ribosomal protein L24 IAGP MGI PMID:9331275 NCBI chr16:55,786,638...55,791,800
Ensembl chr16:55,786,638...55,791,798 		JBrowse link
G Sema3e sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E IEA MGI NCBI chr 5:14,075,290...14,306,703
Ensembl chr 5:14,075,290...14,306,703 		JBrowse link
G Slc6a6 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 IEA MGI NCBI chr 6:91,661,031...91,736,044
Ensembl chr 6:91,661,034...91,736,047 		JBrowse link
G Smoc1 SPARC related modular calcium binding 1 IEA MGI NCBI chr12:81,073,582...81,233,188
Ensembl chr12:81,073,582...81,233,188 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein 200 (U5) IEA MGI NCBI chr 2:127,050,306...127,082,373
Ensembl chr 2:127,050,306...127,082,371 		JBrowse link
G Ssbp2 single-stranded DNA binding protein 2 IEA MGI NCBI chr13:91,608,449...91,854,299
Ensembl chr13:91,608,402...91,851,548 		JBrowse link
G Stim2 stromal interaction molecule 2 IEA MGI NCBI chr 5:54,155,865...54,278,399
Ensembl chr 5:54,155,841...54,278,399 		JBrowse link
G Tmem222 transmembrane protein 222 IEA MGI NCBI chr 4:132,993,356...133,005,101
Ensembl chr 4:132,993,356...133,005,103 		JBrowse link
G Top3a topoisomerase (DNA) III alpha IEA MGI NCBI chr11:60,629,014...60,668,099
Ensembl chr11:60,630,884...60,668,191 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 IEA MGI NCBI chr 7:63,803,583...63,923,630
Ensembl chr 7:63,803,583...63,919,523 		JBrowse link
G Ttyh3 tweety family member 3 IEA MGI NCBI chr 5:140,606,332...140,634,826
Ensembl chr 5:140,606,333...140,634,786 		JBrowse link
G Tyw1 tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) IEA MGI NCBI chr 5:130,284,460...130,370,408
Ensembl chr 5:130,284,460...130,370,404 		JBrowse link
G Usp31 ubiquitin specific peptidase 31 IEA MGI NCBI chr 7:121,241,244...121,306,683
Ensembl chr 7:121,241,244...121,306,476 		JBrowse link
G Vopp1 vesicular, overexpressed in cancer, prosurvival protein 1 IEA MGI NCBI chr 6:57,729,249...57,802,110
Ensembl chr 6:57,704,792...57,802,144 		JBrowse link
G Zbtb43 zinc finger and BTB domain containing 43 IEA MGI NCBI chr 2:33,340,299...33,358,592
Ensembl chr 2:33,340,299...33,358,571 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16963
    vision/eye phenotype 3150
      abnormal eye physiology 715
        abnormal pupillary reflex 81
          impaired pupillary reflex 74
Path 2
Term Annotations click to browse term
  mammalian phenotype 16963
    behavior/neurological phenotype 5977
      abnormal behavior 5964
        abnormal motor capabilities/coordination/movement 4417
          abnormal involuntary movement 1679
            abnormal reflex 1437
              abnormal pupillary reflex 81
                impaired pupillary reflex 74
paths to the root