Reep1^tm1.1Cahb
Targeted Allele Detail

Summary

• Symbol: Reep1^tm1.1Cahb
• Name: receptor accessory protein 1; targeted mutation 1.1, Christian Hubner
• MGI ID: MGI:5558070
• Gene: Reep1 Location: Chr6:71684545-71787694 bp, + strand Genetic Position: Chr6, 32.2 cM
• Alliance: Reep1^tm1.1Cahb page

Reep1^tm1.1Cahb/Reep1^tm1.1Cahb mice exhibit kyphosis and gait abnormalities

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:204006
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

Allele Type: Targeted (Null/knockout) Mutations: Insertion, Intragenic deletion Mutation details: A loxP site was inserted upstream of exon 2. A neomycin resistance cassette with a 3' loxP site was inserted downstream of exon 2. Cre-mediated recombination removed exon 2 and the selection cassette. Western blot analysis confirmed the absence of protein in the brain. (J:204006)

Generation of the Reep1^tm1.1Cahb allele

Expression

In Mice Carrying this Mutation:	7 assay results
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: 0 strains available Cell Lines: 0 lines available
• Carrying any Reep1 Mutation: 16 strains or lines available

References

• Original: J:204006 Beetz C, et al., A spastic paraplegia mouse model reveals REEP1-dependent ER shaping. J Clin Invest. 2013 Oct 1;123(10):4273-82
• All: 2 reference(s)