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Crb1rd8
Spontaneous Allele Detail
Nomenclature
Symbol: Crb1rd8
Name: crumbs family member 1, photoreceptor morphogenesis associated; retinal degeneration 8
MGI ID: MGI:2676366
Synonyms: nmf144, Rd8-
Gene: Crb1  Location: Chr1:139198254-139377076 bp, - strand  Genetic Position: Chr1, 60.87 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThe mutation in the rd8 mouse has been identified as a single base deletion in the Crb1 gene. This deletion causes a frame shift and a premature stop codon that truncates the transmembrane and cytoplasmic domain of the protein. (J:85459)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 9 strains available      Cell Lines: 0 lines available
Carrying any Crb1 Mutation:  12 strains or lines available
References
Original:  J:85459 Mehalow AK, et al., CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum Mol Genet. 2003 Sep 1;12(17):2179-89
All:  21 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/07/2015
MGI 5.21
The Jackson Laboratory