RGD Reference Report - Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com. - Rat Genome Database
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Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.

Authors: Derry, JM  Gormally, E  Means, GD  Zhao, W  Meindl, A  Kelley, RI  Boyd, Y  Herman, GE 
Citation: Derry JM, etal., Nat Genet 1999 Jul;22(3):286-90.
RGD ID: 734908
Pubmed: (View Article at PubMed) PMID:10391218
DOI: Full-text: DOI:10.1038/10350

Tattered (Td) is an X-linked, semi-dominant mouse mutation associated with prenatal male lethality. Heterozygous females are small and at 4-5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults. Craniofacial anomalies and twisted toes have also been observed in some affected females. A potential second allele of Td has also been described. The phenotype of Td is similar to that seen in heterozygous females with human X-linked dominant chondrodysplasia punctata (CDPX2, alternatively known as X-linked dominant Conradi-Hunermann-Happle syndrome) as well as another X-linked, semi-dominant mouse mutation, bare patches (Bpa). The Bpa gene has recently been identified and encodes a protein with homology to 3beta-hydroxysteroid dehydrogenases that functions in one of the later steps of cholesterol biosynthesis. CDPX2 patients display skin defects including linear or whorled atrophic and pigmentary lesions, striated hyperkeratosis, coarse lusterless hair and alopecia, cataracts and skeletal abnormalities including short stature, rhizomelic shortening of the limbs, epiphyseal stippling and craniofacial defects (MIM 302960). We have now identified the defect in Td mice as a single amino acid substitution in the delta8-delta7 sterol isomerase emopamil binding protein (Ebp; encoded by Ebp in mouse) and identified alterations in human EBP in seven unrelated CDPX2 patients.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Ebp  (EBP, cholestenol delta-isomerase)

Genes (Mus musculus)
Ebp  (phenylalkylamine Ca2+ antagonist (emopamil) binding protein)

Genes (Homo sapiens)
EBP  (EBP cholestenol delta-isomerase)

Objects referenced in this article
0 Hdac6 histone deacetylase 6 All species
0 Porcn porcupine O-acyltransferase All species
0 Pqbp1 polyglutamine binding protein 1 All species
0 Rbm3 RNA binding motif (RNP1, RRM) protein 3 All species
0 Suv39h1 suppressor of variegation 3-9 1 All species
0 Tbc1d25 TBC1 domain family, member 25 All species
0 Tfe3 transcription factor E3 All species
0 Wdr13 WD repeat domain 13 All species

Additional Information