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EN
ENU-induced A to T transversion at base pair 85,628,735 (v38) on chromosome 6, or base pair 41,237 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 6,074 in the mRNA sequence NM_145223 within exon 10 of 23 total exons. The mutation results in substitution of lysine 1,987 for a premature stop codon (K1987*) in the ALMS1 protein. (J:267682)
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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References Literature
Title
PMID
Journal
Year
IF
