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Chemically induced Allele Detail
Symbol: AlplHpp
Name: alkaline phosphatase, liver/bone/kidney; hypophosphatasia
MGI ID: MGI:3051587
Synonyms: Gena328
Gene: Alpl  Location: Chr4:137741733-137796384 bp, - strand  Genetic Position: Chr4, 70.02 cM
Strain of Origin:  BALB/cAnN
Allele Type:    Chemically induced (ENU) (Hypomorph)
Mutation:    Single point mutation
Mutation detailsThe mutation involves a G to A transition in the donor (consensus) splice site of exon 8 (-5bp into the intron), i.e. 862+5G>A. RT-PCR analysis, using RNA derived from liver and kidney, indicates that the mutation affects splicing. A mutant transcript that lacks exon 8 is predicted to introduce an early stop codon, resulting in a truncated (inactive) protein. However, RT-PCR results indicate that a small amount of normal splicing also occurs in homozygous offspring, suggesting that it is a hypomorphic mutation. (J:122319)
Inheritance:    Dominant
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Alpl Mutation:  328 strains or lines available
Original:  J:122319 Hough TA, et al., A Novel Mouse Model of Autosomal Semi-Dominant Adult Hypophosphatasia has a Splice Site Mutation in the Tissue Non-specific Alkaline Phosphatase Gene Akp2. J Bone Miner Res. 2007 Sep;22(9):1397-407
All:  3 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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