Alpl^tm1Jlm
Targeted Allele Detail

Summary

• Symbol: Alpl^tm1Jlm
• Name: alkaline phosphatase, liver/bone/kidney; targeted mutation 1, Jose Luis Millan
• MGI ID: MGI:2183411
• Synonyms: Akp2^-, Akp2 KO, TNAP-
• Gene: Alpl Location: Chr4:137469044-137523695 bp, - strand Genetic Position: Chr4, 70.02 cM
• Alliance: Alpl^tm1Jlm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:39015
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: The gene was disrupted by insertion of a neomycin resistance cassette into exon 6 via homologous recombination. Absence of gene expression in homozygous mutant animals was confirmed by Northern blot and RT-PCR analysis. (J:39015)

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)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Alpl^tm1Jlm/Alpl^tm1Jlm	either: (involves: 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6J)
hm2  Disease Model	Alpl^tm1Jlm/Alpl^tm1Jlm	involves: 129S1/SvImJ * 129S2/SvPas * C57BL/6
hm3	Alpl^tm1Jlm/Alpl^tm1Jlm	involves: 129S2/SvPas * C57BL/6
cn4	Alpl^tm1Jlm/Alpl^+ Phospho1^m1Jlm/Phospho1^m1Jlm	involves: 129S2/SvPas * C3HeB/FeJ * C57BL/6
cx5	Alpl^tm1Jlm/Alpl^tm1Jlm Spp1^tm1Rit/Spp1^tm1Rit	involves: 129S1/SvImJ * 129S2/SvPas * 129S7/SvEvBrd * C57BL/6
cx6	Alpl^tm1Jlm/Alpl^tm1Jlm Spp1^tm1Rit/Spp1^tm1Rit	involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6
cx7	Alpl^tm1Jlm/Alpl^tm1Jlm Phospho1^m1Jlm/Phospho1^m1Jlm	involves: 129S2/SvPas * C3HeB/FeJ * C57BL/6

Phenotypes:

Affected Systems	hm1	hm2	hm3	cn4	cx5	cx6	cx7
show or hide all annotated terms
adipose tissue	√
decreased total body fat amount	√
behavior/neurological	√
impaired coordination	√
weakness	√
seizures	√
cardiovascular system	√
internal hemorrhage	√
lung hemorrhage	√
intracranial hemorrhage	√
cellular			√			√
abnormal osteoblast physiology			√			√
craniofacial	√	√			√
thin parietal bone	√
abnormal alveolar process morphology		√
enlarged dental pulp chamber		√
abnormal tooth development		√
abnormal cementum morphology		√
abnormal dentin morphology					√
abnormal odontoblast morphology		√
abnormal dentin mineralization		√
abnormal tooth root morphology		√
abnormal tooth root development		√			√
short tooth root		√
digestive/alimentary system	√
abnormal small intestine morphology	√
abnormal digestion	√
endocrine/exocrine glands	√
abnormal thymus cortex morphology	√
growth/size/body	√	√			√	√
abnormal alveolar process morphology		√
enlarged dental pulp chamber		√
abnormal tooth development		√
abnormal cementum morphology		√
abnormal dentin morphology					√
abnormal odontoblast morphology		√
abnormal dentin mineralization		√
abnormal tooth root morphology		√
abnormal tooth root development		√			√
short tooth root		√
decreased body weight						√
cachexia	√
hematopoietic system	√
abnormal thymus cortex morphology	√
decreased leukocyte cell number	√
abnormal spleen morphology	√
small spleen	√
pale spleen	√
homeostasis/metabolism	√
decreased circulating alkaline phosphatase level	√
immune system	√
abnormal thymus cortex morphology	√
decreased leukocyte cell number	√
abnormal spleen morphology	√
small spleen	√
pale spleen	√
limbs/digits/tail				√
bowed tibia				√
mortality/aging	√			√		√	√
lethality throughout fetal growth and development, complete penetrance							√
postnatal lethality, complete penetrance	√					√
prenatal lethality, incomplete penetrance				√
muscle	√
abnormal muscle morphology	√
nervous system	√
seizures	√
intracranial hemorrhage	√
abnormal spinal nerve morphology	√
respiratory system	√
lung hemorrhage	√
apnea	√
skeleton	√	√	√	√	√	√	√
abnormal osteoblast physiology			√			√
thin parietal bone	√
abnormal alveolar process morphology		√
enlarged dental pulp chamber		√
abnormal tooth development		√
abnormal cementum morphology		√
abnormal dentin morphology					√
abnormal odontoblast morphology		√
abnormal dentin mineralization		√
abnormal tooth root morphology		√
abnormal tooth root development		√			√
short tooth root		√
bowed tibia				√
decreased long bone epiphyseal plate size	√
abnormal long bone metaphysis morphology	√
scoliosis				√
increased bone mineral density of presacral vertebrae						√
increased bone mineral density of lumbar vertebrae						√
decreased bone mineral density			√
abnormal osteoblast morphology	√
increased bone trabecula number						√
abnormal bone mineralization							√
decreased bone mineralization	√	√		√		√
decreased bone ossification				√
fragile skeleton	√			√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1	hm2
infantile hypophosphatasia IDs infantile hypophosphatasia       DOID:0110914 OMIM:241500 ORDO:247651 Close	√	√

Expression

In Structures Affected by this Mutation:

18 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:39015 Narisawa S, et al., Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. Dev Dyn. 1997 Mar;208(3):432-46
• All: 32 reference(s)