Spata7^tm1Mrd
Targeted Allele Detail

Summary

• Symbol: Spata7^tm1Mrd
• Name: spermatogenesis associated 7; targeted mutation 1, Graeme Mardon
• MGI ID: MGI:5660490
• Gene: Spata7 Location: Chr12:98594416-98636074 bp, + strand Genetic Position: Chr12, 49.88 cM
• Alliance: Spata7^tm1Mrd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:216279
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A genomic region encoding exons 1-10 was replaced with a neo cassette via homologous recombination. RT-PCR and western blot analysis confirmed the absence of mRNA and protein expression in the retina. (J:216279)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Spata7 Mutation: 27 strains or lines available

References

• Original: J:216279 Eblimit A, et al., Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2015 Mar 15;24(6):1584-601
• All: 5 reference(s)