Mlh1^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Mlh1^m2Btlr
• Name: mutL homolog 1; mutation 2, Bruce Beutler
• MGI ID: MGI:6200239
• Synonyms: andalusia2
• Gene: Mlh1 Location: Chr9:111057296-111100854 bp, - strand Genetic Position: Chr9, 60.92 cM
• Alliance: Mlh1^m2Btlr 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 details: ENU-induced T to G transversion at base pair 111,271,523 (v38) on chromosome 9, or base pair 264 in the GenBank genomic region NC_000075 encoding Mlh1. The mutation corresponds to residue 86 in the mRNA sequence NM_026810 within exon 1 of 19 total exons. The mutation results in a methionine to arginine substitution at position 1 (M1R) in the MLH1 protein. (J:265207)
• Inheritance: Recessive

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Mlh1^m2Btlr/Mlh1^m2Btlr	C57BL/6J-Mlh1^m2Btlr

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
hematopoietic system	√
decreased IgE level	√
increased IgM level	√
immune system	√
abnormal humoral immune response	√
decreased IgE level	√
increased IgM level	√

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:265207 Choi JH, et al., Mutagenetix entry for andalusia2. MGI Direct Data Submission. 2018
• All: 1 reference(s)