About   Help   FAQ
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 (345 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

growth/size/body
• most mutants become progressively exhausted and body weights are only 30-50% of controls at the time of death

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

adipose tissue
• animals have almost no body fat

behavior/neurological
• poor coordination and mutants appear disoriented
• 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
• animals became progressively exhausted
• about 50% of mutants exhibit severe epileptic seizures 1-2 days before their death
• 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

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

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

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

muscle
• reduction in muscle structure

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

nervous system
• about 50% of mutants exhibit severe epileptic seizures 1-2 days before their death
• 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
• bleeding in the cranial ventricle is observed in some mutants that have a severe seizure attack and die
• nerve roots emerging from the spinal cord and descending within the dura are thinner than in controls
• reduction in nerve root mass; not due to increased cell death

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

craniofacial
• thin parietal bones

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

endocrine/exocrine glands
• thinner thymus cortex
• the cortex of the thymus contains many basophilic necrotic apoptotic cells

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
infantile hypophosphatasia DOID:0110914 OMIM:241500
J:39015


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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
01/24/2023
MGI 6.22
The Jackson Laboratory