Phenotypes Associated with This Genotype

Genotype
MGI:6154152

• Allelic Composition: Tg(EIIa-cre)C5379Lmgd/?; Trip11^tm1.2Psmi/Trip11^tm1.2Psmi
• Genetic Background: involves: 129/Sv * C57BL/6 * FVB/N

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

cellular

abnormal endoplasmic reticulum morphology ( J:253969 )

• in E15.5 chondrocytes

craniofacial

maxilla hypoplasia ( J:253969 )

domed cranium ( J:253969 )

protruding tongue ( J:253969 )

digestive/alimentary system

protruding tongue ( J:253969 )

growth/size/body

protruding tongue ( J:253969 )

decreased body length ( J:253969 )

skeleton

maxilla hypoplasia ( J:253969 )

domed cranium ( J:253969 )

small thoracic cage ( J:253969 )

short vertebral column ( J:253969 )

abnormal chondrocyte morphology ( J:253969 )

• E15.5 chondrocytes have a swollen appearance, massive expansion of the endoplasmic rediculum, and disruption of the golgi apparatus

delayed bone mineralization ( J:253969 )

delayed bone ossification ( J:253969 )

• assessment of the humeri at E15.5 finds delayed formation of the primary ossificatiion center

limbs/digits/tail

short limbs ( J:253969 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondrogenesis type IA		DOID:0080054	OMIM:200600	J:253969