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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Alpltm1Jlm
targeted mutation 1, Jose Luis Millan
MGI:2183411
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Alpltm1Jlm/Alpltm1Jlm either: (involves: 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6J) MGI:2654850
hm2
Alpltm1Jlm/Alpltm1Jlm involves: 129S2/SvPas * C57BL/6 MGI:4361903
cn3
Alpltm1Jlm/Alpl+
Phospho1m1Jlm/Phospho1m1Jlm
involves: 129S2/SvPas * C3HeB/FeJ * C57BL/6 MGI:5049916
cx4
Alpltm1Jlm/Alpltm1Jlm
Spp1tm1Rit/Spp1tm1Rit
involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6 MGI:4361902
cx5
Alpltm1Jlm/Alpltm1Jlm
Phospho1m1Jlm/Phospho1m1Jlm
involves: 129S2/SvPas * C3HeB/FeJ * C57BL/6 MGI:5049917


Genotype
MGI:2654850
hm1
Allelic
Composition
Alpltm1Jlm/Alpltm1Jlm
Genetic
Background
either: (involves: 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpltm1Jlm mutation (0 available); any Alpl mutation (328 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die before weaning, on average at 8-10 days of age (J:39015)
• mice die before weaning, on average at 8-10 days of age (J:39015)

growth/size/body
• animals have almost no body fat (J:39015)
• animals have almost no body fat (J:39015)
• most mutants become progressively exhausted and body weights are only 30-50% of controls at the time of death (J:39015)
• most mutants become progressively exhausted and body weights are only 30-50% of controls at the time of death (J:39015)

homeostasis/metabolism
• most neonates and embryos (E9.5 and E18.5) do not have any detectable alkaline phosphatase activity in the serum, although about 30% of neonates do have low levels (J:39015)
• most neonates and embryos (E9.5 and E18.5) do not have any detectable alkaline phosphatase activity in the serum, although about 30% of neonates do have low levels (J:39015)

adipose tissue
• animals have almost no body fat (J:39015)
• animals have almost no body fat (J:39015)

behavior/neurological
• poor coordination and mutants appear disoriented (J:39015)
• 9-10 day old mutants fall off a small box much quicker than controls and when placed on inclined planes, they do not distinguish if they are placed facing upwards or downwards on the slope like wild-type which always move up the slope (J:39015)
• poor coordination and mutants appear disoriented (J:39015)
• 9-10 day old mutants fall off a small box much quicker than controls and when placed on inclined planes, they do not distinguish if they are placed facing upwards or downwards on the slope like wild-type which always move up the slope (J:39015)
• animals became progressively exhausted (J:39015)
• animals became progressively exhausted (J:39015)
• about 50% of mutants exhibit severe epileptic seizures 1-2 days before their death (J:39015)
• seizures appear as constant running in the cage, high-pitched vocalizations, biting of the tongue, and loss of consciousness in a supine position associated with apnea for periods of 30 sec or more (J:39015)
• about 50% of mutants exhibit severe epileptic seizures 1-2 days before their death (J:39015)
• seizures appear as constant running in the cage, high-pitched vocalizations, biting of the tongue, and loss of consciousness in a supine position associated with apnea for periods of 30 sec or more (J:39015)

digestive/alimentary system
• large amounts of gas in small intestines (J:39015)
• large amounts of gas in small intestines (J:39015)
• small intestine contains large amount of gas, suggesting impaired intestinal movement (J:39015)
• small intestine contains large amount of gas, suggesting impaired intestinal movement (J:39015)

hematopoietic system
• thinner thymus cortex (J:39015)
• the cortex of the thymus contains many basophilic necrotic apoptotic cells (J:39015)
• thinner thymus cortex (J:39015)
• the cortex of the thymus contains many basophilic necrotic apoptotic cells (J:39015)
• WBC count is reduced to 58.3% of wild-type (J:39015)
• WBC count is reduced to 58.3% of wild-type (J:39015)
• spleen exhibits a reduction in cell mass in the outer layer and an altered ratio of red to white pulp (J:39015)
• spleen exhibits a reduction in cell mass in the outer layer and an altered ratio of red to white pulp (J:39015)

immune system
• thinner thymus cortex (J:39015)
• the cortex of the thymus contains many basophilic necrotic apoptotic cells (J:39015)
• thinner thymus cortex (J:39015)
• the cortex of the thymus contains many basophilic necrotic apoptotic cells (J:39015)
• WBC count is reduced to 58.3% of wild-type (J:39015)
• WBC count is reduced to 58.3% of wild-type (J:39015)
• spleen exhibits a reduction in cell mass in the outer layer and an altered ratio of red to white pulp (J:39015)
• spleen exhibits a reduction in cell mass in the outer layer and an altered ratio of red to white pulp (J:39015)

muscle
• reduction in muscle structure (J:39015)
• reduction in muscle structure (J:39015)

respiratory system
• bleeding in lung tissue is observed in some mutants that have a severe seizure attack and die (J:39015)
• bleeding in lung tissue is observed in some mutants that have a severe seizure attack and die (J:39015)
• occurs in conjunction with the epileptic seizures (J:39015)
• occurs in conjunction with the epileptic seizures (J:39015)

nervous system
• about 50% of mutants exhibit severe epileptic seizures 1-2 days before their death (J:39015)
• seizures appear as constant running in the cage, high-pitched vocalizations, biting of the tongue, and loss of consciousness in a supine position associated with apnea for periods of 30 sec or more (J:39015)
• about 50% of mutants exhibit severe epileptic seizures 1-2 days before their death (J:39015)
• seizures appear as constant running in the cage, high-pitched vocalizations, biting of the tongue, and loss of consciousness in a supine position associated with apnea for periods of 30 sec or more (J:39015)
• bleeding in the cranial ventricle is observed in some mutants that have a severe seizure attack and die (J:39015)
• bleeding in the cranial ventricle is observed in some mutants that have a severe seizure attack and die (J:39015)
• nerve roots emerging from the spinal cord and descending within the dura are thinner than in controls (J:39015)
• reduction in nerve root mass; not due to increased cell death (J:39015)
• nerve roots emerging from the spinal cord and descending within the dura are thinner than in controls (J:39015)
• reduction in nerve root mass; not due to increased cell death (J:39015)

cardiovascular system
• 50% of mutants that died after severe seizure attacks showed bleeding in the thoracic cavity (J:39015)
• 50% of mutants that died after severe seizure attacks showed bleeding in the thoracic cavity (J:39015)
• bleeding in lung tissue is observed in some mutants that have a severe seizure attack and die (J:39015)
• bleeding in lung tissue is observed in some mutants that have a severe seizure attack and die (J:39015)
• bleeding in the cranial ventricle is observed in some mutants that have a severe seizure attack and die (J:39015)
• bleeding in the cranial ventricle is observed in some mutants that have a severe seizure attack and die (J:39015)

craniofacial
• thin parietal bones (J:39015)
• thin parietal bones (J:39015)

skeleton
• thin parietal bones (J:39015)
• thin parietal bones (J:39015)
• shorter growth plates in the metaphysis of P11 mutants (J:39015)
• shorter growth plates in the metaphysis of P11 mutants (J:39015)
• metaphysis contains excessive number of erythroctyes (J:39015)
• metaphysis contains excessive number of erythroctyes (J:39015)
• osteoblasts with abnormal morphology are seen on the surfaces of trabeculae and in the periosteal region of the diaphysis (J:39015)
• up to 50% of mature osteoblasts in the parietal bones contain abnormal vacuoles (J:39015)
• osteoblasts with abnormal morphology are seen on the surfaces of trabeculae and in the periosteal region of the diaphysis (J:39015)
• up to 50% of mature osteoblasts in the parietal bones contain abnormal vacuoles (J:39015)
• poor mineralization in the parietal bones, scapulae, vertebral bones, and ribs at P8 (J:39015)
• poor mineralization in the parietal bones, scapulae, vertebral bones, and ribs at P8 (J:39015)
• observe evidence of spontaneous fractures in the fibulae (J:39015)
• observe evidence of spontaneous fractures in the fibulae (J:39015)

endocrine/exocrine glands
• thinner thymus cortex (J:39015)
• the cortex of the thymus contains many basophilic necrotic apoptotic cells (J:39015)
• thinner thymus cortex (J:39015)
• the cortex of the thymus contains many basophilic necrotic apoptotic cells (J:39015)

Mouse Models of Human Disease
OMIM ID Ref(s)
Hypophosphatasia, Infantile 241500 J:39015




Genotype
MGI:4361903
hm2
Allelic
Composition
Alpltm1Jlm/Alpltm1Jlm
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpltm1Jlm mutation (0 available); any Alpl mutation (328 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• phosphate and calcium deposition in bone is decreased compared to in wild-type mice (J:128077)
• phosphate and calcium deposition in bone is decreased compared to in wild-type mice (J:128077)
• calvarial osteoblasts from smaller mineralized nodules compared with Alpltm1Jlm homozygous cells (J:128077)
• calvarial osteoblasts from smaller mineralized nodules compared with Alpltm1Jlm homozygous cells (J:128077)




Genotype
MGI:5049916
cn3
Allelic
Composition
Alpltm1Jlm/Alpl+
Phospho1m1Jlm/Phospho1m1Jlm
Genetic
Background
involves: 129S2/SvPas * C3HeB/FeJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpltm1Jlm mutation (0 available); any Alpl mutation (328 available)
Phospho1m1Jlm mutation (0 available); any Phospho1 mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice are born (J:173678)
• fewer than expected mice are born (J:173678)

skeleton
• at the site of fractures (J:173678)
• at the site of fractures (J:173678)
• prominent at P10 (J:173678)
• prominent at P10 (J:173678)
• secondary ossification centers are smaller and less developed than in Phospho1m1Jlm homozygotes (J:173678)
• secondary ossification centers are smaller and less developed than in Phospho1m1Jlm homozygotes (J:173678)
• mice exhibit reduced bone mineralization compared with Phospho1m1Jlm homozygotes (J:173678)
• mice exhibit osteoidosis unlike wild-type mice (J:173678)
• mice exhibit reduced bone mineralization compared with Phospho1m1Jlm homozygotes (J:173678)
• mice exhibit osteoidosis unlike wild-type mice (J:173678)
• prominent at P10 (J:173678)
• prominent at P10 (J:173678)

limbs/digits/tail
• at the site of fractures (J:173678)
• at the site of fractures (J:173678)




Genotype
MGI:4361902
cx4
Allelic
Composition
Alpltm1Jlm/Alpltm1Jlm
Spp1tm1Rit/Spp1tm1Rit
Genetic
Background
involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpltm1Jlm mutation (0 available); any Alpl mutation (328 available)
Spp1tm1Rit mutation (5 available); any Spp1 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within 10 to 14 days of birth (J:128077)
• mice die within 10 to 14 days of birth (J:128077)

skeleton
• mineral deposition is decreased compared to in wild-type mice (J:128077)
• mineral deposition is decreased compared to in wild-type mice (J:128077)
• bone marrow density and bone volume fraction in thoracic vertebrae are increased compared to in Alpltm1Jlm homozygotes (J:128077)
• bone marrow density and bone volume fraction in lumbar vertebrae are increased compared to in wild-type mice (J:128077)
• bone volume fraction in lumbar vertebrae are increased compared to in wild-type mice and Spp1tm1Rit homozygotes (J:128077)
• bone marrow density and bone volume fraction in thoracic vertebrae are increased compared to in Alpltm1Jlm homozygotes (J:128077)
• bone marrow density and bone volume fraction in lumbar vertebrae are increased compared to in wild-type mice (J:128077)
• bone volume fraction in lumbar vertebrae are increased compared to in wild-type mice and Spp1tm1Rit homozygotes (J:128077)
• trabecular number is greater than in Alpltm1Jlm homozygotes and wild-type mice (J:128077)
• trabecular number is greater than in Alpltm1Jlm homozygotes and wild-type mice (J:128077)
• calvarial osteoblasts form larger mineralized nodules compared with Alpltm1Jlm homozygous cells (J:128077)
• calvarial osteoblasts form larger mineralized nodules compared with Alpltm1Jlm homozygous cells (J:128077)

growth/size/body




Genotype
MGI:5049917
cx5
Allelic
Composition
Alpltm1Jlm/Alpltm1Jlm
Phospho1m1Jlm/Phospho1m1Jlm
Genetic
Background
involves: 129S2/SvPas * C3HeB/FeJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpltm1Jlm mutation (0 available); any Alpl mutation (328 available)
Phospho1m1Jlm mutation (0 available); any Phospho1 mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• while normal numbers of mice are present at E16.5, only one stillborn mouse is observed from multiple matings (J:173678)
• while normal numbers of mice are present at E16.5, only one stillborn mouse is observed from multiple matings (J:173678)

skeleton
• at E16.5, mice exhibit a complete lack of skeletal mineralization of bone and cartilage compared with wild-type mice (J:173678)
• at E16.5, calcification of vertebral bones and femur is reduced compared to in wild-type mice (J:173678)
• the one stillborn mouse produced lacked mineralization in the appendicular skeleton and exhibit partial mineralization of the axial skeleton and craniofacial bones compared with wild-type mice (J:173678)
• at E16.5, mice exhibit a complete lack of skeletal mineralization of bone and cartilage compared with wild-type mice (J:173678)
• at E16.5, calcification of vertebral bones and femur is reduced compared to in wild-type mice (J:173678)
• the one stillborn mouse produced lacked mineralization in the appendicular skeleton and exhibit partial mineralization of the axial skeleton and craniofacial bones compared with wild-type mice (J:173678)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory