This mutation was identified in a blood screen of G3 progeny of an ENU mutagenized male mouse. The mutation comprises a C to A transversion at nucleotide position 2783 of the gene. It converts the codon encoding tyrosine at amino acid position 886, in the C-terminal region of the core protein sequence, to a translation termination codon (Y886Ter). This is predicted to truncate the core by 123 and the full length protein by 155 amino acids. (J:150635)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
7
4

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

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PMID
Journal
Year
IF
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