Atp1a2tm1.1Gica
Targeted Allele Detail
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| Symbol: |
Atp1a2tm1.1Gica |
| Name: |
ATPase, Na+/K+ transporting, alpha 2 polypeptide; targeted mutation 1.1, Giorgio Casari |
| MGI ID: |
MGI:6729893 |
| Synonyms: |
Atp1a2R887 |
| Gene: |
Atp1a2 Location: Chr1:172099276-172125631 bp, - strand Genetic Position: Chr1, 79.6 cM
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| Alliance: |
Atp1a2tm1.1Gica page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:307518
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| Parent Cell Line: |
Not Specified (ES Cell)
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| Strain of Origin: |
Not Specified
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| Allele Type: |
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Targeted (Humanized sequence) |
| Mutations: |
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Insertion, Single point mutation
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Mutation details: A T to C transition at position 2763 (position 2659 on Build GRCm39) resulting in a tryptophan to arginine substitution at amino acid 887 was inserted into exon 19. An FRT-flanked neomycin selection cassette was inserted downstream of exon 19 and removed via Flp-mediated recombination. This is a mutation associated with human familial hemiplegic migraine type 2. The mutant protein is barely detectable in the brain of homozygotes and reduced in heterozygotes.
(J:307518)
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View phenotypes and curated references for all genotypes (concatenated display).
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| 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
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| Carrying any Atp1a2 Mutation: |
62 strains or lines available
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| Original: |
J:307518 Leo L, et al., Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2. PLoS Genet. 2011 Jun;7(6):e1002129 |
| All: |
3 reference(s) |
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Analysis Tools
