Mouse Genome Informatics
hm
    Tcirg1oc/Tcirg1oc
B6C3Fe a/a-Tcirg1oc/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice die by day 20 and lose weight several days before death

skeleton
• 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)
• 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
• osteoclasts are smaller than in wild-type mice
• extramedullary hematopoiesis continues after birth in the spleen and liver unlike in wild-type mice
• prominent megakaryocytosis is present in the liver

growth/size
• 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
• 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)
• the predentin layer in the molars and incisors are 2- to 3-fold thicker than in wild-type mice
• mice exhibit decreased body weight compared to wild-type mice at day 15 to 20
• mice lose weight several days before death

endocrine/exocrine glands
• thyroid tissues are more prominent than in wild-type mice

behavior/neurological
• circling is observed two weeks after birth (J:7870)

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
• 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)
• the predentin layer in the molars and incisors are 2- to 3-fold thicker than in wild-type mice

immune system
• osteoclasts are smaller than in wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Osteopetrosis, Autosomal Recessive 1; OPTB1 259700 J:61295