Hcn2^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Hcn2^m3Btlr
• Name: hyperpolarization-activated, cyclic nucleotide-gated K+ 2; mutation 3, Bruce Beutler
• MGI ID: MGI:6285968
• Synonyms: asombrarse
• Gene: Hcn2 Location: Chr10:79552468-79571942 bp, + strand Genetic Position: Chr10, 39.72 cM, cytoband C1
• Alliance: Hcn2^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 C transition at base pair 79,724,611 (v38) on chromosome 10, or base pair 7,978 in the GenBank genomic region NC_000076 encoding Hcn2. The mutation corresponds to residue 810 in the mRNA sequence NM_178666 within exon 2 of 8 total exons. The mutation results in a tyrosine to histidine substitution at position 259 (Y259H) in the HCN2 protein. (J:272834)
• 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=3750

References

• Original: J:272834 Zhang Z, et al., Mutagenetix entry for asombrarse. MGI Direct Data Submission. 2019
• All: 1 reference(s)