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Alpltm2.1Jlm
Targeted Allele Detail
Summary
Symbol: Alpltm2.1Jlm
Name: alkaline phosphatase, liver/bone/kidney; targeted mutation 2.1, Jose Luis Millan
MGI ID: MGI:5818891
Synonyms: AlplA116T
Gene: Alpl  Location: Chr4:137469044-137523695 bp, - strand  Genetic Position: Chr4, 70.02 cM
Alliance: Alpltm2.1Jlm page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:237759
Parent Cell Line:  Bruce 4 (ES Cell)
Strain of Origin:  B6.Cg-Thy1a
Mutation
description
Allele Type:    Targeted (Dominant negative, Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsA c.346G>A base change, corresponding to an A116T substitution, was introduced into exon 5. A loxP flanked neomycin resistance cassette was removed via cre-mediated recombination. (J:237759)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Alpl Mutation:  352 strains or lines available
References
Original:  J:237759 Foster BL, et al., Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia. J Dent Res. 2015 May;94(5):706-14
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory