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EN
This ENU-induced mutation was isolated in the Munich genome wide ENU recessive mutagenesis program. Gene mapping identified a one base pair substitution, a T36351 to C36351 transition at the splice donor site of intron 29, leading to a frame-shift of translation inducing an addition of 16 new amino acids at the carboxyl-terminus and a premature stop codon. (J:234038)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
