Alpl^tm2.1Jlm
Targeted Allele Detail

Summary

• Symbol: Alpl^tm2.1Jlm
• Name: alkaline phosphatase, liver/bone/kidney; targeted mutation 2.1, Jose Luis Millan
• MGI ID: MGI:5818891
• Synonyms: Alpl^A116T
• Gene: Alpl Location: Chr4:137469044-137523695 bp, - strand Genetic Position: Chr4, 70.02 cM
• Alliance: Alpl^tm2.1Jlm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:237759
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Dominant negative, Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A 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

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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ht1  Disease Model	Alpl^tm2.1Jlm/Alpl^+	involves: 129S4/SvJaeSor * C57BL/6

Phenotypes:

Affected Systems	ht1
show or hide all annotated terms
craniofacial	√
abnormal parietal bone morphology	√
abnormal alveolar process morphology	√
abnormal cementum mineralization	√
abnormal acellular cementum morphology	√
abnormal cellular cementum morphology	√
growth/size/body	√
abnormal alveolar process morphology	√
abnormal cementum mineralization	√
abnormal acellular cementum morphology	√
abnormal cellular cementum morphology	√
homeostasis/metabolism	√
decreased alkaline phosphatase activity	√
skeleton	√
abnormal parietal bone morphology	√
abnormal alveolar process morphology	√
abnormal cementum mineralization	√
abnormal acellular cementum morphology	√
abnormal cellular cementum morphology	√
increased bone trabecula number	√
decreased trabecular bone thickness	√
decreased bone mineralization	√
delayed bone mineralization	√
increased bone resorption	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ht1
adult hypophosphatasia IDs adult hypophosphatasia       DOID:0110913 OMIM:146300 ORDO:247676 Close	√

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)