Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol: Kcna1mceph Name: potassium voltage-gated channel, shaker-related subfamily, member 1; megencephaly MGI ID: MGI:1856949 Synonyms: Kv1.1mceph, mceph Gene: Kcna1  Location: Chr6:126617360-126623347 bp, - strand  Genetic Position: Chr6, 61.57 cM, cytoband F1-F3 Alliance: Kcna1mceph page

Abnormal posture of the Kcna1mceph/Kcna1mceph mouse Show the 3 phenotype image(s) involving this allele.

Strain of Origin:

BALB/cByJ

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

5 anatomical structure(s)

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

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)