This ENU induced mutant has a G-to-A transition at chromosome 17 position 15,545,085 (GRCm38) which causes a change in amino acid 478 from glutamine to a premature stop codon (p.Q478*). Mutant germ cells produce a truncated protein detected by an antibody that detects the N-terminal domains. (J:222308, J:250814)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
--
3

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

Title
PMID
Journal
Year
IF
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