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This mutation was discovered by its visible phenotype among G1 progeny of an ENU mutagenized mouse. It comprises an A to T transversion at nucleotide position 1178, in the tenth of the gene's 11 exons, that replaces a triplet encoding lysine with a premature transcription termination codon at amino acid position 366 (K366Ter) and truncates the protein by 98 amino acids at its carboxyl terminus. (J:146738)
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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References Literature
Title
PMID
Journal
Year
IF
