This mutation has been identified as a T to A transversion that destroys the donor splice site of intron 27 (GTAAG -> GAAAG) (position 92815 in the Genbank genomic region NC_000079 for linear genomic DNA sequence of Lyst). The mutation is predicted to result in skipping of the 27th of the 53 exons of Lyst, which would shift the reading frame after amino acid position 2474, leading to a premature stop codon at amino acid position 2482. (J:133616)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Undefined
Recessive
1
2
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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