ENU-mutagenesis induced a C to T transition, introducing a premature termination codon and resulting in a truncated protein of 95 amino acids instead of 418. This nonsense mutation presumably leads to a loss-of-function allele as the truncated protein would not contain the six conserved transmembrane regions. This mutant was identified in a screen for ataxia. (J:242350)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J x 129S6/SvEvTac
Chemically induced
Single point
Recessive
1
3
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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