B6.129P2-Bpnt2^{Gt(RST634)Byg}/J

Stock number: 012922
Research areas: Developmental Biology Research, Internal/Organ Research

Description

Homozyous Bpnt2 (3'(2'), 5'-bisphosphate nucleotidase 2; also called gPAPP) mutant mice die within 10 minutes of birth due to severe respiratory insufficiency and chondrodysplasia. Mutants have shortened limbs due to defects in endochondral ossification which are hypothesized to be due to an undersulfonation of chondroitin and heparin sulfate. This strain may be useful in studies of skeletal development and sulfation.

Detailed description

Homozyous Bpnt2 (3'(2'), 5'-bisphosphate nucleotidase 2; also called gPAPP) mutant mice die within 10 minutes of birth due to severe respiratory insufficiency and chondrodysplasia. Mutants have shortened limbs due to defects in endochondral ossification which are hypothesized to be due to an undersulfonation of chondroitin and heparin sulfate. No phenotypic differences have been observed between this C57BL/6 background strain and the mixed C57BL/6-129 background strain (Stock No. 012921). This strain may be useful in studies of skeletal development and sulfation.

Development

A 129P2/OlaHsd-derived mouse embryonic stem (ES) cell line (RST 634, Bay Genomics) carrying only the first exon of the targeted gene fused to beta galactosidase (lacZ) was used to create this strain. This strain was backcrossed to C57BL/6 for 8 generations by the donating laboratory.

Allele

Symbol: Bpnt2^{Gt(RST634)Byg}
Name: gene trap RST634, BayGenomics
MGI accession ID: MGI:3810994
Generation method: Gene trapped
Attributes: Reporter; Null/Knockout
Marker symbol: Bpnt2
Marker name: 3'(2'), 5'-bisphosphate nucleotidase 2
Chromosome: 4
Strain of origin: 129P2/OlaHsd
Molecular note: Insertion of the gene-trap vector in the first intron encodes the first exon of Impad1 gene fused to beta-galactosidase. It is predicted to express a truncated mutant protein that would contain only 1 of 13 catalytically conserved residues. Western blot and biochemical analyses confirmed homozygous mice are deficient for functional enzyme.