Phenotypes Associated with This Genotype

Genotype
MGI:3623481

• Allelic Composition: Col1a1^tm1Jcm/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 in Col1a1^tm1.1Jcm/Col1a1⁺ and Col1a1^tm1Jcm/Col1a1⁺ mice

mortality/aging

neonatal lethality, complete penetrance ( J:59168 )

• F1 heterozygotes die a few hours after birth from respiratory distress

respiratory system

respiratory distress ( J:59168 )

• F1 heterozygotes die a few hours after birth from respiratory distress

skeleton

abnormal neurocranium morphology ( J:59168 )

• decrease in calvarial mineralization

rib fractures ( J:59168 )

• exhibit multiple rib fractures

short vertebral body ( J:59168 )

• short vertebral bodies

craniofacial

abnormal neurocranium morphology ( J:59168 )

• decrease in calvarial mineralization

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteogenesis imperfecta type 2		DOID:0110341	OMIM:166210	J:59168