This phenotypic mutant was identified in an ENU mutagenesis screen. A C to T transition at the second base of intron 2 led to two novel splice variants. One mutant transcript contains a 10 bp deletion while the other has a 26 bp deletion, both leading to a frameshift mutation. (J:99982)

Basic Information

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

Title
PMID
Journal
Year
IF
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