Sequence analysis showed that this allele carries an A-to-G base change at the 3' splice acceptor site of intron 4, eliminating the exon 5 splice acceptor site by changing it from ATG to TGG. (J:8332, J:8514, J:20245, J:42978, J:42979)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(KLM STOCK x XY STOCK)F1
Spontaneous
Single point
Recessive
1
7
97

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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