Pycr2^tm1.1Brre
Targeted Allele Detail

Summary

• Symbol: Pycr2^tm1.1Brre
• Name: pyrroline-5-carboxylate reductase family, member 2; targeted mutation 1.1, Bruno Reversade
• MGI ID: MGI:6470408
• Gene: Pycr2 Location: Chr1:180731858-180735653 bp, + strand Genetic Position: Chr1, 84.46 cM, cytoband H5
• Alliance: Pycr2^tm1.1Brre page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:296329
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 3-6 were replaced with a loxP site flanked neomycin resistance gene cassette. The neo cassette was removed through subsequent cre-mediated recombination. Western blot and immunofluorescence studies of primary dermal fibroblasts confirmed the lack of protein expression from this allele. (J:296329)

Expression

In Structures Affected by this Mutation:

3 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 Pycr2 Mutation: 23 strains or lines available

References

• Original: J:296329 Escande-Beillard N, et al., Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2. Neuron. 2020 Jul 8;107(1):82-94.e6
• All: 1 reference(s)