Ntmt1^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ntmt1^m1Btlr
• Name: N-terminal Xaa-Pro-Lys N-methyltransferase 1; mutation 1, Bruce Beutler
• MGI ID: MGI:6200272
• Synonyms: puny
• Gene: Ntmt1 Location: Chr2:30697838-30713045 bp, + strand Genetic Position: Chr2, 21.74 cM
• Alliance: Ntmt1^m1Btlr 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 A to G transversion at base pair 30,822,365 (v38) on chromosome 2, or base pair 12,924 in the GenBank genomic region NC_000068 encoding Ntmt1. The mutation corresponds to residue 568 in the mRNA sequence NM_170592 within exon 4 of 4 total exons. The mutation results in a histidine to arginine substitution at amino acid 140 (H140R) in the NTMT1 protein. (J:265230)
• 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 Ntmt1 Mutation: 24 strains or lines available

References

• Original: J:265230 Turer E, et al., Mutagenetix entry for puny. MGI Direct Data Submission. 2018
• All: 1 reference(s)