P3h2^{tm1d(KOMP)Wtsi}
Targeted Allele Detail

Summary

• Symbol: P3h2^{tm1d(KOMP)Wtsi}
• Name: prolyl 3-hydroxylase 2; targeted mutation 1d, Wellcome Trust Sanger Institute
• MGI ID: MGI:5792811
• Synonyms: P3h2ⁿ
• Gene: P3h2 Location: Chr16:25778038-25924534 bp, - strand Genetic Position: Chr16, 17.63 cM
• Alliance: P3h2^{tm1d(KOMP)Wtsi} page
• IMPC: P3h2 gene page

Mutation origin

• Mutant Cell Line: EPD0238_4_A08
• Germline Transmission: Earliest citation of germline transmission: J:220554
• Parent Cell Line: JM8.N4 (ES Cell)
• Strain of Origin: C57BL/6N
• Project Collection: KOMP-CSD

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion Vector: L1L2_Bact_P
• Mutation details: The L1L2_Bact_P cassette was inserted at position 25811182 of Chromosome 16 upstream of the critical exon 3 (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon 3 at position 25812047. The critical exon 3 is thus flanked by loxP sites. A "conditional ready" (floxed) allele was created by flp recombinase expression in mice carrying this allele. Subsequent cre expression resulted in a knockout mouse. Further information on targeting strategies used for this and other IKMC alleles can be found at http://www.informatics.jax.org/mgihome/nomen/IKMC_schematics.shtml. Western blot analysis confirmed the absence of protein expression in the kidney. (J:220554)

Expression

In Structures Affected by this Mutation:

1 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 P3h2 Mutation: 35 strains or lines available

References

• Original: J:220554 Hudson DM, et al., Post-translationally Abnormal Collagens of Prolyl 3-Hydroxylase-2 Null Mice Offer a Pathobiological Mechanism for the High Myopia Linked to Human LEPREL1 Mutations. J Biol Chem. 2015 Mar 27;290(13):8613-22
• All: 1 reference(s)