Col13a1^tm4.1Pih
Targeted Allele Detail

Summary

• Symbol: Col13a1^tm4.1Pih
• Name: collagen, type XIII, alpha 1; targeted mutation 4.1, Taina Pihlajaniemi
• MGI ID: MGI:6116692
• Synonyms: Col13a1^tm
• Gene: Col13a1 Location: Chr10:61674015-61814887 bp, - strand Genetic Position: Chr10, 32.29 cM, cytoband B4
• Alliance: Col13a1^tm4.1Pih page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:242846
• Parent Cell Line: W4 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Homologous recombination was used to insert a selection cassette flanked by loxP sites in the first intron and an RRRR- to ATAA- mutation in exon 2 to delete a furin type proprotein convertase recognition sequence. Cre-mediated recombination removed the selection cassette. This mutation results in all protein being of the transmembrane form. Western blot confirmed the presence of transmembrane forms and absence of the shed form of the protein. (J:242846)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Col13a1 Mutation: 70 strains or lines available

References

• Original: J:242846 Haronen H, et al., Collagen XIII secures pre- and postsynaptic integrity of the neuromuscular synapse. Hum Mol Genet. 2017 Jun 01;26(11):2076-2090
• All: 3 reference(s)