ENU-induced T to C transition at base pair 13,647,083 (v38) on chromosome 13, or base pair 56,745 in the GenBank genomic region NC_000079 for the Lyst gene. The mutation corresponds to residue 4,222 in the mRNA sequence NM_010748 within exon 11 of 53 total exons. The mutation results in substitution of cysteine (C) 1,347 to a premature stop codon (C1347*) in the protein. (J:234265)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
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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