mortality/aging
• mice die by day 20 and lose weight several days before death
|
skeleton
• the base of the mandibular incisor extend posteriorly only to the first molar compared to in wild-type mice where it extends to the third molar
• root and crown surfaces of the incisors are irregular
|
• the predentin layer in the molars and incisors are 2- to 3-fold thicker than in wild-type mice
|
• tooth eruption is absent or delayed with only one of 23 mice exhibiting a partially erupted incisor at day 10 to 20 and no molars erupt in any of the mice compared to wild-type mice whose incisors erupt at day 10 and whose first molars erupt at day 16
(J:7870)
• tooth eruption is absent or delayed
(J:61295)
|
• osteoclasts are smaller than in wild-type mice
|
• the columns of hypertrophic chondrocytes are distorted
|
• thicker
(J:7766)
• epiphyseal plates are wider and thicker than in wild-type mice
(J:7870)
|
• the junction between the growth plate and the metaphysis exhibits a paucity of capillary loops invading the lacunae in the hypertrophic zone
(J:7766)
• the trabeculae is disorganized and thickened
(J:7766)
• unmineralized or underminiralized areas are observed unlike in wild-type mice
(J:7766)
• unlike in wild-type mice, metaphyseal bones contain large, central vascular channels that abut epiphyseal cartilage
(J:7870)
• unlike in wild-type mice, cytoplasmic vacuolizations are present next to the trabecular surfaces
(J:7870)
• unlike in wild-type mice, the calcified cartilage cores of the metaphyseal trabeculae are outlines in darkly staining line and wide expanses of unmineralized bone matrix
(J:7870)
|
osteopetrosis
(
J:7870
)
• mice exhibit typical features of osteopetrosis such as a dense, sclerotic skeleton, failure of development of marrow spaces and clubbing of the ends of the long bones
• mice exhibit expanded radiolucencies at the ends of the long bones
|
hematopoietic system
• extramedullary hematopoiesis continues after birth in the spleen and liver unlike in wild-type mice
|
• prominent megakaryocytosis is present in the liver
|
• osteoclasts are smaller than in wild-type mice
|
growth/size/body
• the base of the mandibular incisor extend posteriorly only to the first molar compared to in wild-type mice where it extends to the third molar
• root and crown surfaces of the incisors are irregular
|
• the predentin layer in the molars and incisors are 2- to 3-fold thicker than in wild-type mice
|
• tooth eruption is absent or delayed with only one of 23 mice exhibiting a partially erupted incisor at day 10 to 20 and no molars erupt in any of the mice compared to wild-type mice whose incisors erupt at day 10 and whose first molars erupt at day 16
(J:7870)
• tooth eruption is absent or delayed
(J:61295)
|
• mice exhibit decreased body weight compared to wild-type mice at day 15 to 20
|
weight loss
(
J:7870
)
• mice lose weight several days before death
|
endocrine/exocrine glands
• thyroid tissues are more prominent than in wild-type mice
|
behavior/neurological
homeostasis/metabolism
• mice fail to exhibit an increase in insulin levels following administration of glucose
|
craniofacial
• the base of the mandibular incisor extend posteriorly only to the first molar compared to in wild-type mice where it extends to the third molar
• root and crown surfaces of the incisors are irregular
|
• the predentin layer in the molars and incisors are 2- to 3-fold thicker than in wild-type mice
|
• tooth eruption is absent or delayed with only one of 23 mice exhibiting a partially erupted incisor at day 10 to 20 and no molars erupt in any of the mice compared to wild-type mice whose incisors erupt at day 10 and whose first molars erupt at day 16
(J:7870)
• tooth eruption is absent or delayed
(J:61295)
|
immune system
• osteoclasts are smaller than in wild-type mice
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autosomal recessive osteopetrosis 1 | DOID:0110942 |
OMIM:259700 |
J:61295 |