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| Nomenclature |
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Symbol:
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AlplHpp
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Name:
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alkaline phosphatase, liver/bone/kidney;
hypophosphatasia
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MGI ID: |
MGI:3051587 |
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Gene:
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Alpl
Location:
Chr4:137741733-137796384 bp, - strand
Genetic Position: Chr4,
70.02 cM
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Mutation
origin |
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Strain of Origin:
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BALB/cAnN
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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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)
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Inheritance: | |
Dominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
