Alpl^Hpp
Chemically induced Allele Detail

Summary

• Symbol: Alpl^Hpp
• Name: alkaline phosphatase, liver/bone/kidney; hypophosphatasia
• MGI ID: MGI:3051587
• Synonyms: Gena328
• Gene: Alpl Location: Chr4:137469044-137523695 bp, - strand Genetic Position: Chr4, 70.02 cM
• Alliance: Alpl^Hpp page

Mutation origin

• Strain of Origin: BALB/cAnN

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: The 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

Disease models

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: 2 strains available Cell Lines: 0 lines available
• Carrying any Alpl Mutation: 352 strains or lines available

References

• 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)