Prrt2^{tm1d(KOMP)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Prrt2^{tm1d(KOMP)Wtsi}
• Name: proline-rich transmembrane protein 2; targeted mutation 1d, Wellcome Trust Sanger Institute
• MGI ID: MGI:6502626
• Gene: Prrt2 Location: Chr7:126616703-126620383 bp, - strand Genetic Position: Chr7, 69.28 cM
• Alliance: Prrt2^{tm1d(KOMP)Wtsi} page
• IMPC: Prrt2 gene page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:299667
• Parent Cell Line: JM8A1.N3 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: KOMP-CSD

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The L1L2_Bact_P cassette was inserted at position 126618446 of Chromosome 7 upstream of the critical exon 2 (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon at position 126619783. The critical exon 2 is thus flanked by loxP sites. A null/knockout allele was created by flp and cre recombinase expression in mice carrying this allele to remove the lacZ sequence, neo selection cassette and the loxP-flanked critical exon 2. Further information on targeting strategies used for this and other IKMC alleles can be found at http://www.informatics.jax.org/mgihome/nomen/IKMC_schematics.shtml. Immunohistochemistry and Western blot analysis confirmed absence of protein in the cerebellar cortex and liver, respectively, of homozygotes. (J:299667)

Disease models

Expression

In Mice Carrying this Mutation:	20 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 Prrt2 Mutation: 17 strains or lines available

References

• Original: J:299667 Calame DJ, et al., Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia. Neuroscience. 2020 Nov 10;448:272-286
• All: 1 reference(s)