A G to A transition at the -1 position of the spice acceptor site at the intron 1 - exon 2 junction is predicted to result in the abolition of this acceptor site. As a result, PCR suggests two splice variants in the homozygous mutant: one using a cryptic acceptor site in intron 1 and then the canonical donor site of exon 2 (resulting in novel amino-acids and a premature stop codon) and one skipping exon 2 (with the coding region remaining in-frame). No complementation was seen among offspring in crosses between heterozygotes of this allele and homozygotes of head tilt or head tilt 2 Jackson. (J:89010, J:169054)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Chemically induced
Single point
Recessive
1
--
2

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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