This allele is a single base change from T to A in the exon 4 splice donor. This results in a primary product in which exon 4 is deleted as well as a minor product with both exons 4 and 5 deleted. In either case, a frame shift results and mRNA transcript cannot be detected by whole mount in situ hybridization. An mRNA that was approximately 70 bases shorter than normal could be detected by RT-PCR but only weakly. (J:87046)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BTBR
Chemically induced
Single point
--
1
2
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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