Col1a1^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Col1a1^m1Btlr
• Name: collagen, type I, alpha 1; mutation 1, Bruce Beutler
• MGI ID: MGI:3776559
• Synonyms: seal
• Gene: Col1a1 Location: Chr11:94827050-94843868 bp, + strand Genetic Position: Chr11, 59.01 cM, cytoband D
• Alliance: Col1a1^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation is a T-to-A transversion in the donor splice site of intron 36 (GT->GA). It is predicted to cause skipping of the 108-amino acid exon 36 (of 51 total exons), near the middle of the triple-helical domain of the collagen protein. Quantitative RT-PCR confirmed that transcripts are reduced in total RNA, nuclear RNA and cytoplasmic RNA from femurs, however the ratio of exon 36-37/exon 40-41 mRNA in the nucleus, but not the cytoplasmic or total RNA, is reduced due to reduced levels of exon 36-37 transcript compared to exon 40-41 transcript in the nuclear fraction of femurs. Sequencing of transcripts across the junction between exon 35 and the next exon show normal splicing of exon 35 to exon 36 in RNAs isolated from femurs and normal splining between exon 36 and exon 37 is also seen. (J:132554, J:253622)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

10 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 Col1a1 Mutation: 160 strains or lines available

References

• Original: J:253622 Tabeta K, et al., An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue. Sci Rep. 2017 Sep 15;7(1):11717
• All: 2 reference(s)