P3h1^tm1.1Brle
Targeted Allele Detail

Summary

• Symbol: P3h1^tm1.1Brle
• Name: prolyl 3-hydroxylase 1; targeted mutation 1.1, Brendan Lee
• MGI ID: MGI:5532323
• Synonyms: Lepre1^H622A
• Gene: P3h1 Location: Chr4:119090112-119106172 bp, + strand Genetic Position: Chr4, 55.34 cM, cytoband D1
• Alliance: P3h1^tm1.1Brle page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:204353
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: An H662A (histidine to alanine; CAT to GCT) mutation was introduced to a catalytic site encoded by exon 14 via a recombineering strategy. A loxP-flanked neomycin resistance selection cassette was placed upstream, in intron 13. Germ line, cre-mediated recombination removed the neomycin cassette. Please note that an error in the publication indicates that the mutation was introduced into exon 12, the correct exon is 14. (J:101977, J:204353)

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: 1 strain available Cell Lines: 0 lines available
• Carrying any P3h1 Mutation: 27 strains or lines available

References

• Original: J:204353 Homan EP, et al., Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues. PLoS Genet. 2014 Jan;10(1):e1004121
• All: 2 reference(s)