Using CRISPR/Cas9 technology, an 8 bp deletion (ACACAAGT) was created in the FVB strain, resulting in a frameshift and a premature stop codon. The resulting peptide lacks the last 21 wild-type amino-acids and gains five new amino-acids before premature termination, thus disrupting both an ER retention signal and an RGS3 PDZ binding motif. The deletion encompasses SNP rs13477613 (G>T, the last T in the deletion), which is specific to FVB and A/J. (J:282171)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB
Endonuclease-mediated
Intragenic deletion
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1
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1

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

References Literature

Title
PMID
Journal
Year
IF
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