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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 (161 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

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

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

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

limbs/digits/tail
• fore and hind legs are bowed and thinner than wild-type

cardiovascular system
• pulmonary hemorrhage is seen in embryos

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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteogenesis imperfecta type 4 DOID:0110340 OMIM:166220
J:59168


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/28/2024
MGI 6.13
The Jackson Laboratory