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CRISPR-Cas9 mediated mutagenesis created a T to C missense mutation at position 404 (c404T>C) in exon 4 resulting in a proline substitution for leucine at amino acid 135 (pLeu135Pro) that has been identified in patients with Retinitis Pigmentosa. Western blot analysis indicates that protein levels in the retina are similar to that in wild-type mice. (J:248574)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
