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Mlh1m1Btlr
Chemically induced Allele Detail
Summary
Symbol: Mlh1m1Btlr
Name: mutL homolog 1; mutation 1, Bruce Beutler
MGI ID: MGI:6200234
Synonyms: andalusia
Gene: Mlh1  Location: Chr9:111057296-111100854 bp, - strand  Genetic Position: Chr9, 60.92 cM
Alliance: Mlh1m1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-induced T to C transition at base pair 111,271,410 (v38) on chromosome 9, or base pair 377 in the GenBank genomic region NC_000075 encoding Mlh1. The mutation corresponds to residue 199 in the mRNA sequence NM_026810 within exon 1 of 19 total exons. The mutation results in a cysteine to arginine substitution at position 39 (C39R) in the MLH1 protein. (J:265206)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Mlh1 Mutation:  44 strains or lines available
References
Original:  J:265206 Choi JH, et al., Mutagenetix entry for andalusia. MGI Direct Data Submission. 2018;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory