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Phenotypes Associated with This Genotype
Genotype
MGI:3623489
Allelic
Composition
Col1a1tm1.1Jcm/Col1a1+
Genetic
Background
either: (involves: 129X1/SvJ * C3H/HeJ) or (involves: 129X1/SvJ * CD-1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col1a1tm1.1Jcm mutation (0 available); any Col1a1 mutation (74 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal abnormalities and small size of Col1a1tm1.1Jcm/Col1a1+ mice

mortality/aging
• 40-60% of F2 pups die within a few hours after birth from respiratory distress (J:59168)
• 40-60% of F2 pups die within a few hours after birth from respiratory distress (J:59168)

growth/size/body
• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone (J:59168)
• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone (J:59168)
• pulp cavity of molars appears necrotic and infected with bacteria (J:59168)
• pulp cavity of molars appears necrotic and infected with bacteria (J:59168)
• thorax has a narrow apex and flared base (J:59168)
• thorax has a narrow apex and flared base (J:59168)
• size is about 50% that of wild-type until 6 weeks of age, after which size increases to about 80% of normal (J:59168)
• size is about 50% that of wild-type until 6 weeks of age, after which size increases to about 80% of normal (J:59168)

respiratory system
• pulmonary hemorrhage is seen in embryos (J:59168)
• pulmonary hemorrhage is seen in embryos (J:59168)
• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone (J:59168)
• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone (J:59168)
• 40-60% of F2 pups die within a few hours after birth from respiratory distress (J:59168)
• 40-60% of F2 pups die within a few hours after birth from respiratory distress (J:59168)

skeleton
• calvarium is thinner and poorly mineralized (J:59168)
• calvarium is thinner and poorly mineralized (J:59168)
• show disorganized islands of bone formation in the maxilla in the area around the molars (J:59168)
• show disorganized islands of bone formation in the maxilla in the area around the molars (J:59168)
• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone (J:59168)
• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone (J:59168)
• exhibit long bone fractures (J:59168)
• exhibit long bone fractures (J:59168)
• narrow pelvis (J:59168)
• narrow pelvis (J:59168)
• ramus of ischium appears to be laterally flared (J:59168)
• ramus of ischium appears to be laterally flared (J:59168)
• multiple rib fractures (J:59168)
• multiple rib fractures (J:59168)
• gracile ribs (J:59168)
• gracile ribs (J:59168)
• deformed and flared rib cage (J:59168)
• deformed and flared rib cage (J:59168)
• vertebral bodies are disorganized, osteoporotic, shorter, and flattened (J:59168)
• vertebral bodies are disorganized, osteoporotic, shorter, and flattened (J:59168)
• general undermineralization of the skeleton, especially of the skull (J:59168)
• general undermineralization of the skeleton, especially of the skull (J:59168)

limbs/digits/tail
• fore and hind legs are bowed and thinner than wild-type (J:59168)
• fore and hind legs are bowed and thinner than wild-type (J:59168)

cardiovascular system
• pulmonary hemorrhage is seen in embryos (J:59168)
• pulmonary hemorrhage is seen in embryos (J:59168)

craniofacial
• calvarium is thinner and poorly mineralized (J:59168)
• calvarium is thinner and poorly mineralized (J:59168)
• show disorganized islands of bone formation in the maxilla in the area around the molars (J:59168)
• show disorganized islands of bone formation in the maxilla in the area around the molars (J:59168)
• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone (J:59168)
• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone (J:59168)
• pulp cavity of molars appears necrotic and infected with bacteria (J:59168)
• pulp cavity of molars appears necrotic and infected with bacteria (J:59168)

Mouse Models of Human Disease
OMIM ID Ref(s)
Osteogenesis Imperfecta, Type I; OI1 166200 J:59168


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory