The human placental alkaline phosphatase (AP) reporter was introduced to the Ndp (Norrie disease (pseudoglioma) (human)) locus. The coding region is intact but it is not apparently expressed. As a result, the retinal hypovascularization defect caused by this allele is as severe as that seen with a conventional null allele. This strain may be useful in studies of vascular growth, remodeling, maintenance, and disease.
Jeremy Nathans, Johns Hopkins UniversityRead More +
The human placental alkaline phosphatase (AP) reporter was introduced upstream of the Ndp (Norrie disease (pseudoglioma) (human)) locus start codon. The coding region is intact but it is not apparently expressed and as a result, the retinal hypovascularization defect caused by this allele is as severe as that seen with a conventional null allele. Retinas exhibit retarded vascular growth and sparse vascular coverage. Histochemical staining for AP in males shows homogenous staining throughout the retina at postnatal day 4 (P4), P7 and in adulthood. AP expression in females is mosaic as a result of X chromosome inactivation, and may be useful in visualizing individual cell morphologies. This strain may be useful in studies of vascular growth, remodeling, maintenance, and disease.
The coding sequence of human placenta alkaline phosphatase gene and rabbit beta-globin 3' UTR followed by a PGK-neomycin resistance cassette flanked by FRT sites were inserted upstream of the start codon of the targeted gene (exon 2, 5' UTR). The mutation was created in (129X1/SvJ x 129S1/Sv)F1- Kitl+-derived R1 embryonic stem (ES) cells. Resultant mice were crossed to a germline FLP strain to excise the neomycin cassette. The strain was maintained on a mixed C57BL/6 and 129 background by the donating laboratory.
|Expressed Gene||ALPP, alkaline phosphatase, placental, human|
|Site of Expression|
|Allele Name||targeted mutation 1.1, Jeremy Nathans|
|Allele Type||Targeted (Null/Knockout, Reporter)|
|Gene Symbol and Name||Ndp, Norrie disease (pseudoglioma) (human)|
|Gene Synonym(s)||EVR2; FEVR; ND; NDP; Ndph; Ndph; Norrie disease homolog; Norrin|
|Expressed Gene||ALPP, alkaline phosphatase, placental, human|
|Strain of Origin||(129X1/SvJ x 129S1/Sv)F1-Kitl<+>|
|Molecular Note||An alkaline phosphatase sequence was inserted in exon2 along with an frt flanked PGK-neomycin cassette. Excision of the PGK-neo cassette was accomplished by crossing mice to Tg(ACTFLPe)9205Dym.|
|Mutations Made By|| |
Jeremy Nathans, Johns Hopkins University
|Please inquire about possible genotypes.|
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