Hcn2^ap
Spontaneous Allele Detail

Summary

• Symbol: Hcn2^ap
• Name: hyperpolarization-activated, cyclic nucleotide-gated K+ 2; apathetic
• MGI ID: MGI:3838227
• Gene: Hcn2 Location: Chr10:79552468-79571942 bp, + strand Genetic Position: Chr10, 39.72 cM, cytoband C1
• Alliance: Hcn2^ap page

Mutation origin

• Strain of Origin: DW/Pas

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Duplication
• Mutation details: Four base pairs (TTCA) were duplicated at nucleotide position 1669 in the cyclic nucleotide binding domain. RT-PCR confirmed a 90% decrease in transcript expression. The absence of protein expression was confirmed by immunohistochemistry on brain sections. (J:146530)
• 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

References

• Original: J:146530 Chung WK, et al., Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2. Neurobiol Dis. 2009 Mar;33(3):499-508
• All: 3 reference(s)