This ENU-induced insertion of a single C into a string of 9 successive cytosines in a highly conserved GC-rich region is predicted to result in the replacement of 39 C-terminal amino acids with 20 novel amino acids, disrupting the last 3 PPPSPxS motifs in the cytoplasmic domain and introducing a premature stop codon. (J:241491)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Nucleotide repeat expansion
Recessive
1
16
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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