Kcna1^mceph
Spontaneous Allele Detail

Summary

• Symbol: Kcna1^mceph
• Name: potassium voltage-gated channel, shaker-related subfamily, member 1; megencephaly
• MGI ID: MGI:1856949
• Synonyms: Kv1.1^mceph, mceph
• Gene: Kcna1 Location: Chr6:126617360-126623347 bp, - strand Genetic Position: Chr6, 61.57 cM, cytoband F1-F3
• Alliance: Kcna1^mceph page

Abnormal posture of the Kcna1^mceph/Kcna1^mceph mouse

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: BALB/cByJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: An 11 bp deletion occurs in this mutant, either between bp 2124 and 2134 or between 2129 and 2139. This deletion causes a frame shift which creates a premature stop codon. The resulting protein is 230 amino acids in length as opposed to 495 amino acids for a normal protein. The cytosolic N-terminal, first transmembrane segment and extracellular loop of the protein are preserved. (J:89910)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Kcna1 Mutation: 26 strains or lines available

References

• Original: J:38104 Donahue LR, et al., Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain. Mamm Genome. 1996 Dec;7(12):871-6
• All: 11 reference(s)