Hcn1^M1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Hcn1^M1Btlr
• Name: hyperpolarization activated cyclic nucleotide gated potassium channel 1; mutation 1, Bruce Beutler
• MGI ID: MGI:6268766
• Synonyms: Thump
• Gene: Hcn1 Location: Chr13:117738856-118117564 bp, + strand Genetic Position: Chr13, 66.34 cM
• Alliance: Hcn1^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 T transversion at base pair 117,873,905 (v38) on chromosome 13, or base pair 271,586 in the GenBank genomic region NC_000079 encoding Hcn1. The mutation corresponds to residue 1,402 in the mRNA sequence NM_010408 within exon 4 of 8 total exons. The mutation results in substitution of lysine 340 for a premature stop codon (K340*) in the HCN1 protein. (J:267552)
• Inheritance: Semidominant

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 Hcn1 Mutation: 49 strains or lines available

References

• Original: J:267552 Teixeira S, et al., Mutagenetix entry for Thump. MGI Direct Data Submission. 2018
• All: 1 reference(s)