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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tcirg1oc
osteosclerotic
MGI:1856973
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tcirg1oc/Tcirg1oc B6C3Fe a/a-Tcirg1oc/J MGI:2174761
hm2
Tcirg1oc/Tcirg1oc C57BL/6J-Vps33abf MGI:3770247


Genotype
MGI:2174761
hm1
Allelic
Composition
Tcirg1oc/Tcirg1oc
Genetic
Background
B6C3Fe a/a-Tcirg1oc/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tcirg1oc mutation (1 available); any Tcirg1 mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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)
• 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
• 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
• 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




Genotype
MGI:3770247
hm2
Allelic
Composition
Tcirg1oc/Tcirg1oc
Genetic
Background
C57BL/6J-Vps33abf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tcirg1oc mutation (1 available); any Tcirg1 mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die between 30 and 40 days of age although one mouse survived longer

skeleton
• extra bone deposits are present on the chondrocostal junction and in the hindlimb

behavior/neurological
• circling behavior is apparent at day 10 to 12 and worsens with age

limbs/digits/tail

craniofacial

growth/size/body

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
clubfoot DOID:11836 OMIM:119800
J:28464





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory