This mutant allele comprises a G-to-A nucleotide substitution, changing the splice donor consensus sequence at the 5' end of intron 42 from G-gt to G-at. This abolishes or greatly reduces the efficiency of the splice site and results in aberrant transcripts that skip exon 42 or retain intron 42, both of wich are out-of-frame alterations. (J:36596)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
AKR/J
Spontaneous
Single point
Recessive
1
15
41

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top