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Targeted Allele Detail
Symbol: Atp2c1tm1Ges
Name: ATPase, Ca++-sequestering; targeted mutation 1, Gary E Shull
MGI ID: MGI:3722875
Synonyms: Spca1-
Gene: Atp2c1  Location: Chr9:105403539-105527319 bp, - strand  Genetic Position: Chr9, 56.61 cM, cytoband F1
Failure of rostral neural tube closure in Atp2c1tm1Ges/Atp2c1tm1Ges embryos

Show the 4 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:124662
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 17 assay results
In Structures Affected by this Mutation: 9 anatomical structures
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 Atp2c1 Mutation:  47 strains or lines available
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
All:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
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