P4ha1^tm1Jomy
Targeted Allele Detail

Summary

• Symbol: P4ha1^tm1Jomy
• Name: procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide; targeted mutation 1, Johanna Myllyharju
• MGI ID: MGI:3706369
• Gene: P4ha1 Location: Chr10:59159118-59209126 bp, + strand Genetic Position: Chr10, 29.52 cM
• Alliance: P4ha1^tm1Jomy page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:120302
• Parent Cell Line: GS1 (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 2 is replaced by a lacZ/neo cassette. RT-PCR analysis confirmed the absence of mRNA in homozygous embryos at E10.5. Enzymatic activity, as determined in an activity assay with radioactively-labeled substrate, was reduced to 20% of normal activity. (J:120302)

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 P4ha1 Mutation: 27 strains or lines available

References

• Original: J:120302 Holster T, et al., Loss of assembly of the main basement membrane collagen, type IV, but not fibril-forming collagens and embryonic death in collagen prolyl 4-hydroxylase I null mice. J Biol Chem. 2007 Jan 26;282(4):2512-9
• All: 7 reference(s)