Hcn2^m4Btlr
Chemically induced Allele Detail

Summary

• Symbol: Hcn2^m4Btlr
• Name: hyperpolarization-activated, cyclic nucleotide-gated K+ 2; mutation 4, Bruce Beutler
• MGI ID: MGI:6305115
• Synonyms: mire
• Gene: Hcn2 Location: Chr10:79552468-79571942 bp, + strand Genetic Position: Chr10, 39.72 cM, cytoband C1
• Alliance: Hcn2^m4Btlr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced T to A transversion at base pair 79,729,113 (v38) on chromosome 10, or base pair 12,480 in the GenBank genomic region NC_000076 within the splice donor site of intron 4 (2-base pairs from exon 4 out of 8 total exons). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic splice site in intron 4. The resulting transcript would have a 90-base pair insertion of intron 4, which would cause an in-frame insertion of 30 aberrant amino acids after amino acid 452 of the protein (which is normally 863 amino acids long). (J:274859)
• 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 Hcn2 Mutation: 31 strains or lines available

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=4268

References

• Original: J:274859 Zhao Z, et al., Mutagenetix entry for mire. MGI Direct Data Submission. 2019
• All: 1 reference(s)