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EN
This spontaneous mutation arose at The Jackson Laboratory in 1985. A point mutation (G to A) in the +5 position of the splice donor site in the third intron of the gene was revealed by DNA sequence analysis. RT-PCR analysis showed that aberrant transcripts were expressed from this allele, all of which are predicted to alter the reading frame of the protein. (J:95686)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
