Crb1rd8
Spontaneous Allele Detail
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| Symbol: |
Crb1rd8 |
| Name: |
crumbs family member 1, photoreceptor morphogenesis associated; retinal degeneration 8 |
| MGI ID: |
MGI:2676366 |
| Synonyms: |
Crb16N, nmf144, Rd8- |
| Gene: |
Crb1 Location: Chr1:139124794-139304838 bp, - strand Genetic Position: Chr1, 60.87 cM
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| Alliance: |
Crb1rd8 page
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| Strain of Origin: |
C57BL/6By or C57BL/6N
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| Allele Type: |
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Spontaneous |
| Mutation: |
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Intragenic deletion
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Mutation details: The mutation in the rd8 mouse has been identified as a single base deletion of a C (G on forward strand) at coding nucleotide 3481 in the gene. This deletion causes a frame shift and a premature stop codon that truncates the transmembrane and cytoplasmic domain of the protein after amino acid 1207. This mutation has been found to be present in all sublines of C57BL/6N and in C57BL/6ByJ, but not in any C57BL/6J subline. It occurred sometime between transfer of mice from JAX to NIH, in 1951, and from NIH to Donald Bailey, in 1961.
(J:85459, J:182353)
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| Inheritance: |
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Recessive |
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View phenotypes and curated references for all genotypes (concatenated display).
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| 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: |
77 reference(s) |
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