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| Nomenclature |
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Symbol:
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Atp2c1tm1Ges
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Name:
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ATPase, Ca++-sequestering;
targeted mutation 1, Gary E Shull
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MGI ID: |
MGI:3722875 |
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Synonyms: |
Spca1- |
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Gene:
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Atp2c1
Location:
Chr9:105403539-105521257 bp, - strand
Genetic Position: Chr9,
56.61 cM, cytoband F1
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Failure of rostral neural tube closure in Atp2c1tm1Ges/Atp2c1tm1Ges embryos
Show the 4 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:124662
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A neomycin selection cassette replaced exons 10-13, which encode both the catalytic phosphorylation domain and transmembrane domains 3 and 4. RT-PCR and sequencing analysis revealed expression of a mutant mRNA in which exon 9 is spliced to exon 14. Western analysis revealed decreased protein expression in heterozygous mice (J:124662)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:124662
Okunade GW et al.,
"Loss of the Atp2c1 Secretory Pathway Ca2+-ATPase (SPCA1) in Mice Causes Golgi Stress, Apoptosis, and Midgestational Death in Homozygous Embryos and Squamous Cell Tumors in Adult Heterozygotes."
J Biol Chem 2007 Sep 7;282(36):26517-27
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All: |
2 reference(s)
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Analysis Tools
