Atp2c1^tm1Ges
Targeted Allele Detail

Summary

• Symbol: Atp2c1^tm1Ges
• Name: ATPase, Ca++-sequestering; targeted mutation 1, Gary E Shull
• MGI ID: MGI:3722875
• Synonyms: Spca1^-
• Gene: Atp2c1 Location: Chr9:105288561-105398456 bp, - strand Genetic Position: Chr9, 56.61 cM, cytoband F1
• Alliance: Atp2c1^tm1Ges page

Failure of rostral neural tube closure in Atp2c1^tm1Ges/Atp2c1^tm1Ges embryos

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:124662
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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)

Disease models

Expression

In Mice Carrying this Mutation:	17 assay results
In Structures Affected by this Mutation:	7 anatomical structure(s)

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: 74 strains or lines available

References

• 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)