Col13a1^tm1Pih
Targeted Allele Detail

Summary

• Symbol: Col13a1^tm1Pih
• Name: collagen, type XIII, alpha 1; targeted mutation 1, Taina Pihlajaniemi
• MGI ID: MGI:2386983
• Synonyms: Col13a1^N
• Gene: Col13a1 Location: Chr10:61674015-61814887 bp, - strand Genetic Position: Chr10, 32.29 cM, cytoband B4
• Alliance: Col13a1^tm1Pih page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:71939
• 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: Exon 1, which encodes 96 residues that make up the cytosolic and transmembrane domains as well as a portion of the ectodomain, was deleted by in vitro cre mediated recombination. An aberrant trasncript resulting from a cryptic splice site within intron 1 was detected by RT-PCR. Sequence analysis identified two start codons in intron 1 that are in frame with exon 2. Translation of the aberrant transcript is expected to produce a protein in which the 96 endogenous amino acids are replaced with either 65 or 11 residues encoded by intronic sequence. The novel amino terminal is expected to lack the transmembrane and signal peptide characteristics of the endogenous protein. (J:71939)

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Col13a1 Mutation: 70 strains or lines available

References

• Original: J:71939 Kvist AP, et al., Lack of cytosolic and transmembrane domains of type xiii collagen results in progressive myopathy. Am J Pathol. 2001 Oct;159(4):1581-92
• All: 2 reference(s)