Cftr<sup>em1Sage</sup> (cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage)

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Gene: Cftr^em1Sage (cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage) Rattus norvegicus

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Symbol:	Cftr^em1Sage
Name:	cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage
RGD ID:	14392814
Description:	A 16 bp deletion in exon 3 of the Cystic Fibrosis transmembrane conductance regulator (CFTR) was induced in Sprague Dawley rats (Ntac:SD), resulting in loss of protein expression. ASSOCIATED WITH abnormal chloride level; abnormal circulating protein level; abnormal epiphyseal plate morphology; ASSOCIATED WITH congenital bilateral absence of vas deferens; cystic fibrosis
Type:	allele of Cftr
Is Marker For:	Strains: SD-Cftr^em1Sage+/- SD-Cftr^em1Sage-/-
Latest Assembly:	mRatBN7.2 - mRatBN7.2 Assembly
Position:	No map positions available.

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

congenital bilateral absence of vas deferens (IMP)

cystic fibrosis (IMP)

Phenotype Annotations Click to see Annotation Detail View

Mammalian Phenotype

abnormal chloride level (IMP)

abnormal circulating protein level (IMP)

abnormal epiphyseal plate morphology (IMP)

abnormal nasal mucosa morphology (IMP)

abnormal small intestinal villus morphology (IMP)

abnormal tooth color (IMP)

abnormal trachea gland morphology (IMP)

abnormal tracheal cartilage morphology (IMP)

decreased body weight (IMP)

decreased circulating insulin-like growth factor I level (IMP)

decreased circulating serum albumin level (IMP)

decreased compact bone volume (IMP)

decreased T cell number (IMP)

decreased trabecular bone volume (IMP)

increased blood urea nitrogen level (IMP)

increased compact bone thickness (IMP)

increased neutrophil cell number (IMP)

short femur (IMP)

References

References - curated

#	Reference Title	Reference Citation
1.	Reduced bone length, growth plate thickness, bone content, and IGF-I as a model for poor growth in the CFTR-deficient rat.	Stalvey MS, etal., PLoS One. 2017 Nov 30;12(11):e0188497. doi: 10.1371/journal.pone.0188497. eCollection 2017.
2.	Characterization of defects in ion transport and tissue development in cystic fibrosis transmembrane conductance regulator (CFTR)-knockout rats.	Tuggle KL, etal., PLoS One. 2014 Mar 7;9(3):e91253. doi: 10.1371/journal.pone.0091253. eCollection 2014.

Genomics

Related Rat Strains

The following Strains have been annotated to Cftr^em1Sage

SD-Cftr^em1Sage+/-

SD-Cftr^em1Sage-/-

Expression

Sequence

Nucleotide Sequences

Additional Information

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Mammalian Phenotype