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Phenotypes Associated with This Genotype
Genotype
MGI:2654850
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


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