Phenotypes Associated with This Genotype

Genotype
MGI:5818893

• Allelic Composition: Alpl^tm2.1Jlm/Alpl⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

craniofacial

abnormal parietal bone morphology ( J:237759 )

• bone surface/bone volume and trabecular number are increased and trabecular thickness is decreased in parietal bone

abnormal alveolar process morphology ( J:237759 )

• alterations in alveolar bone, including radiolucencies and resorptive lesions, osteoid accumulation on the alveolar bone crest

• in the furcation region of the first molar, alveolar bone tissue mineral density is reduced indicating bone hypomineralization and decreased trabecular thickness and increased bone surface/bone volume indicating alterations in trabecular bone

• in lingual alveolar bone, mice show reduced tissue volume, bone volume, and bone volume/tissue volume, indicating reduced bone in the region

• delay in alveolar bone mineralization as indicated by accumulation of osteoid on alveolar bone crests consistent with osteomalacia

abnormal cementum mineralization ( J:237759 )

• cellular cementum shows hypomineralized regions (cementoid)

abnormal acellular cementum morphology ( J:237759 )

• acellular cementum appears thin in molars and incisors

abnormal cellular cementum morphology ( J:237759 )

• cellular cementum shows hypomineralized regions (cementoid)

growth/size/body

abnormal alveolar process morphology ( J:237759 )

• alterations in alveolar bone, including radiolucencies and resorptive lesions, osteoid accumulation on the alveolar bone crest

• in the furcation region of the first molar, alveolar bone tissue mineral density is reduced indicating bone hypomineralization and decreased trabecular thickness and increased bone surface/bone volume indicating alterations in trabecular bone

• in lingual alveolar bone, mice show reduced tissue volume, bone volume, and bone volume/tissue volume, indicating reduced bone in the region

• delay in alveolar bone mineralization as indicated by accumulation of osteoid on alveolar bone crests consistent with osteomalacia

abnormal cementum mineralization ( J:237759 )

• cellular cementum shows hypomineralized regions (cementoid)

abnormal acellular cementum morphology ( J:237759 )

• acellular cementum appears thin in molars and incisors

abnormal cellular cementum morphology ( J:237759 )

• cellular cementum shows hypomineralized regions (cementoid)

homeostasis/metabolism

decreased alkaline phosphatase activity ( J:237759 )

• mean alkaline phosphatase activity is reduced by 50%, and ranging from 34% to 68% of the wild-type mean

skeleton

abnormal parietal bone morphology ( J:237759 )

• bone surface/bone volume and trabecular number are increased and trabecular thickness is decreased in parietal bone

abnormal alveolar process morphology ( J:237759 )

• alterations in alveolar bone, including radiolucencies and resorptive lesions, osteoid accumulation on the alveolar bone crest

• in the furcation region of the first molar, alveolar bone tissue mineral density is reduced indicating bone hypomineralization and decreased trabecular thickness and increased bone surface/bone volume indicating alterations in trabecular bone

• in lingual alveolar bone, mice show reduced tissue volume, bone volume, and bone volume/tissue volume, indicating reduced bone in the region

• delay in alveolar bone mineralization as indicated by accumulation of osteoid on alveolar bone crests consistent with osteomalacia

abnormal cementum mineralization ( J:237759 )

• cellular cementum shows hypomineralized regions (cementoid)

abnormal acellular cementum morphology ( J:237759 )

• acellular cementum appears thin in molars and incisors

abnormal cellular cementum morphology ( J:237759 )

• cellular cementum shows hypomineralized regions (cementoid)

increased bone trabecula number ( J:237759 )

• trabecular number is increased in parietal bone

decreased trabecular bone thickness ( J:237759 )

• trabecular thickness is decreased in parietal and alveolar bones

decreased bone mineralization ( J:237759 )

• hypomineralization of the alveolar bone

delayed bone mineralization ( J:237759 )

• delay in alveolar bone mineralization

increased bone resorption ( J:237759 )

• increase in resorption in alveolar bone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
adult hypophosphatasia		DOID:0110913	OMIM:146300	J:237759