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This mutation, identified in a gene-specific sequence screen of G1 progeny of ENU mutagenized male mice, comprises a T to A transversion at position 934 of the transcript, in the fifth of six exons. It results in replacement of a highly conserved phenylalanine at amino acid position 285 by isoleucine (F285I). (J:156848)
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
