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This mutation, discovered by its visible phenotype among the G3 progeny of an ENU mutagenized male mouse, comprises a C to A transversion at nucleotide position 1866 (Genbank: NM_177431), in the eleventh of the gene's 39 exons. It replaces a codon specifying serine at amino acid position 566 with a termination codon (S566Ter), truncating the encoded protein by 1340 amino acids at its C terminus. (J:145533)
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
