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

Symbol:	Atp1a3tm1Ute
Name:	ATPase, Na+/K+ transporting, alpha 3 polypeptide; targeted mutation 1, Ute Hochgeschwender
MGI ID:	MGI:6162645
Synonyms:	D801N, Mashl-, Mashlool
Gene:	Atp1a3  Location: Chr7:24677592-24705383 bp, - strand  Genetic Position: Chr7, 13.73 cM
Alliance:	Atp1a3tm1Ute page

Germline Transmission:	Earliest citation of germline transmission: J:262419
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Single point mutation   Mutation details: A point mutation of G to A results in the amino acid substitution of asparigine for aspartic acid at position 801 (D801N). This mutation does not effect protein levels but reduces ATPase activity by 54-80%. An FRT-flanked neomycin resistance cassette was inserted. (J:262419)

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

In Structures Affected by this Mutation:

3 anatomical structure(s)

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 Atp1a3 Mutation:	68 strains or lines available

Original:	J:262419 Hunanyan AS, et al., Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. Epilepsia. 2015 Jan;56(1):82-93
All:	2 reference(s)