Mlh1^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Mlh1^m3Btlr
• Name: mutL homolog 1; mutation 3, Bruce Beutler
• MGI ID: MGI:6200245
• Synonyms: andalusia3
• Gene: Mlh1 Location: Chr9:111057296-111100854 bp, - strand Genetic Position: Chr9, 60.92 cM
• Alliance: Mlh1^m3Btlr 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 111,229,838 (v38) on chromosome 9, or base pair 41,949 in the GenBank genomic region NC_000075 in the splice donor site of intron 18. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of a cryptic site in intron 18. The resulting transcript would have a 56-base pair insertion of intron 18, which would cause a frame shifted protein product beginning after amino acid 705 of the protein, and terminating after the inclusion of three aberrant amino acids. (J:265208)
• Inheritance: Recessive

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:265208 Choi JH, et al., Mutagenetix entry for andalusia3. MGI Direct Data Submission. 2018
• All: 1 reference(s)