This phenotypic mutant was identified in an ENU mutagenesis screen. The molecular lesion was identified as a T-to-C transition mutation at the 5' splice donor site for exon 10. RT-PCR analysis indicates that an aberrant transcript is expressed that splices exon 9 to exon 11. (J:136078)

Basic Information

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

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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