Col10a1^tm2.1Rpbh
Targeted Allele Detail

Summary

• Symbol: Col10a1^tm2.1Rpbh
• Name: collagen, type X, alpha 1; targeted mutation 2.1, Raymond P Boot-Handford
• MGI ID: MGI:6259993
• Synonyms: Col10a1 p.Tyr632stop
• Gene: Col10a1 Location: Chr10:34265977-34273081 bp, + strand Genetic Position: Chr10, 18.85 cM, cytoband B1-B3
• Alliance: Col10a1^tm2.1Rpbh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:267200
• Parent Cell Line: PRX-B6N (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A C to G single-base pair substitution that changes the Tyrosine 632 codon (TAC) to a stop codon (TAG; Y632X) was introduced by site-directed mutagenesis in exon 3. A neomycin selection cassette flanked by FRT sites was inserted 199 bp upstream of the native stop codon into a non-conserved region of 3-UTR in exon 2 which is devoid of potential microRNA-binding sites. The selection cassette was excised via flp-mediated recombination. mRNA is stable and mRNA levels are similar to wild-type levels. (J:267200)

Disease models

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Col10a1 Mutation: 28 strains or lines available

References

• Original: J:267200 Forouhan M, et al., Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene. Hum Mol Genet. 2018 Nov 15;27(22):3840-3853
• All: 1 reference(s)