Phenotypes Associated with This Genotype

Genotype
MGI:2174761

• Allelic Composition: Tcirg1^oc/Tcirg1^oc
• Genetic Background: B6C3Fe a/a-Tcirg1^oc/J

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

mortality/aging

postnatal lethality, complete penetrance ( J:7870 )

• mice die by day 20 and lose weight several days before death

skeleton

abnormal incisor morphology ( J:7870 )

• 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

abnormal predentin morphology ( J:7870 )

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

delayed tooth eruption ( J:7870 , J:61295 )

• 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)

abnormal osteoclast morphology ( J:7870 )

• osteoclasts are smaller than in wild-type mice

abnormal long bone hypertrophic chondrocyte zone ( J:7766 )

• the columns of hypertrophic chondrocytes are distorted

increased width of hypertrophic chondrocyte zone ( J:7766 )

increased long bone epiphyseal plate size ( J:7766 , J:7870 )

• thicker (J:7766)

• epiphyseal plates are wider and thicker than in wild-type mice (J:7870)

abnormal long bone metaphysis morphology ( J:7766 , 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

failure of bone resorption ( J:7766 )

hematopoietic system

extramedullary hematopoiesis ( J:7870 )

• extramedullary hematopoiesis continues after birth in the spleen and liver unlike in wild-type mice

increased megakaryocyte cell number ( J:7870 )

• prominent megakaryocytosis is present in the liver

abnormal osteoclast morphology ( J:7870 )

• osteoclasts are smaller than in wild-type mice

growth/size/body

abnormal incisor morphology ( J:7870 )

• 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

abnormal predentin morphology ( J:7870 )

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

delayed tooth eruption ( J:7870 , J:61295 )

• 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)

decreased body size ( J:7870 , J:61295 )

decreased body weight ( J:7870 )

• 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

abnormal thyroid gland morphology ( J:7870 )

• thyroid tissues are more prominent than in wild-type mice

decreased insulin secretion ( J:116082 )

behavior/neurological

circling ( J:7870 , J:61295 )

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

homeostasis/metabolism

decreased insulin secretion ( J:116082 )

decreased circulating insulin level ( J:116082 )

• mice fail to exhibit an increase in insulin levels following administration of glucose

craniofacial

abnormal incisor morphology ( J:7870 )

• 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

abnormal predentin morphology ( J:7870 )

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

delayed tooth eruption ( J:7870 , J:61295 )

• 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

abnormal osteoclast morphology ( J:7870 )

• 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