Phenotypes associated with this allele

• Allele Symbol: Col1a1^tm1.1Jcm
• Allele Name: targeted mutation 1.1, Joan C Marini
• Allele ID: MGI:2158863
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Col1a1^tm1.1Jcm/Col1a1^+	either: (involves: 129X1/SvJ * C3H/HeJ) or (involves: 129X1/SvJ * CD-1)	MGI:3623489
ht2	Col1a1^tm1.1Jcm/Col1a1^+	involves: 129X1/SvJ	MGI:3623487

Genotype
MGI:3623489

ht1

• Allelic Composition: Col1a1^tm1.1Jcm/Col1a1⁺
• Genetic Background: either: (involves: 129X1/SvJ * C3H/HeJ) or (involves: 129X1/SvJ * CD-1)

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

Skeletal abnormalities and small size of Col1a1^tm1.1Jcm/Col1a1⁺ mice

mortality/aging

neonatal lethality, incomplete penetrance ( J:59168 )

• 40-60% of F2 pups die within a few hours after birth from respiratory distress

growth/size/body

abnormal dental pulp cavity morphology ( J:59168 )

• pulp cavity of molars appears necrotic and infected with bacteria

abnormal turbinate morphology ( J:59168 )

• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone

abnormal chest morphology ( J:59168 )

• thorax has a narrow apex and flared base

decreased body size ( J:59168 )

• size is about 50% that of wild-type until 6 weeks of age, after which size increases to about 80% of normal

respiratory system

lung hemorrhage ( J:59168 )

• pulmonary hemorrhage is seen in embryos

abnormal turbinate morphology ( J:59168 )

• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone

respiratory distress ( J:59168 )

• 40-60% of F2 pups die within a few hours after birth from respiratory distress

skeleton

abnormal cranium morphology ( J:59168 )

abnormal neurocranium morphology ( J:59168 )

• calvarium is thinner and poorly mineralized

thin neurocranium ( J:59168 )

abnormal dental pulp cavity morphology ( J:59168 )

• pulp cavity of molars appears necrotic and infected with bacteria

abnormal maxilla morphology ( J:59168 )

• show disorganized islands of bone formation in the maxilla in the area around the molars

abnormal turbinate morphology ( J:59168 )

• nasal turbinates show a presence of osteoid proliferation and tissue composed of fibroblasts rather than mature bone

abnormal long bone morphology ( J:59168 )

• exhibit long bone fractures

abnormal pelvic girdle bone morphology ( J:59168 )

• narrow pelvis

abnormal ischium morphology ( J:59168 )

• ramus of ischium appears to be laterally flared

abnormal rib morphology ( J:59168 )

rib fractures ( J:59168 )

• multiple rib fractures

thin ribs ( J:59168 )

• gracile ribs

abnormal thoracic cage shape ( J:59168 )

• deformed and flared rib cage

abnormal vertebral body morphology ( J:59168 )

• vertebral bodies are disorganized, osteoporotic, shorter, and flattened

decreased bone mineralization ( J:59168 )

• general undermineralization of the skeleton, especially of the skull

limbs/digits/tail

abnormal limb morphology ( J:59168 )

• fore and hind legs are bowed and thinner than wild-type

cardiovascular system

lung hemorrhage ( J:59168 )

• pulmonary hemorrhage is seen in embryos

craniofacial

abnormal cranium morphology ( J:59168 )

abnormal neurocranium morphology ( J:59168 )

• calvarium is thinner and poorly mineralized

thin neurocranium ( J:59168 )

abnormal dental pulp cavity morphology ( J:59168 )

• pulp cavity of molars appears necrotic and infected with bacteria

abnormal maxilla morphology ( J:59168 )

• show disorganized islands of bone formation in the maxilla in the area around the molars

abnormal turbinate morphology ( J:59168 )

• 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

Genotype
MGI:3623487

ht2

• Allelic Composition: Col1a1^tm1.1Jcm/Col1a1⁺
• Genetic Background: involves: 129X1/SvJ

mortality/aging

neonatal lethality, incomplete penetrance ( J:59168 )

• some F1 pups die within 3-4 hours after birth from respiratory distress, although some survive past 1 year of age

growth/size/body

decreased body size ( J:59168 )

• those surviving the neonatal period are 50-80% the size of wild-type

respiratory system

respiratory distress ( J:59168 )

• some F1 pups die within 3-4 hours after birth from respiratory distress

skeleton

abnormal neurocranium morphology ( J:59168 )

• F1 pups exhibit a decrease in calvarial mineralization

rib fractures ( J:59168 )

• F1 pups exhibit multiple rib fractures

short vertebral body ( J:59168 )

• F1 pups have shorter vertebral bodies

decreased bone mineralization ( J:59168 )

• F1 pups exhibit a decrease in calvarial mineralization

craniofacial

abnormal neurocranium morphology ( J:59168 )

• F1 pups exhibit a decrease in calvarial mineralization