This phenotypic mutant was identified in an ENU mutagenesis screen at Harwell. A single T to A transversion is found in exon 44 at position 7164. This converts a tyrosine codon to a nonsense codon at position 2388 in the protein. (J:112274)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C3H/HeN x BALB/cAnN)F1
Chemically induced
Single point
Semidominant
1
22
9

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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