Phenotypes Associated with This Genotype

Genotype
MGI:6154156

• Allelic Composition: Trip11^tm1.1Psmi/Trip11^tm1.2Psmi; Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/?; Tg(Col2a1-cre)1Bhr/?
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL/J

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

craniofacial

domed cranium ( J:253969 )

short snout ( J:253969 )

cellular

abnormal Golgi stack morphology ( J:253969 )

• loss of Golgi apparatus stacking found in humeral chondrocytes

respiratory system

impaired lung alveolus development ( J:253969 )

• histology of newborns shows decreased lung alveolar formation relative to controls, which the authors say appears to be secondary to the small ribcage

skeleton

domed cranium ( J:253969 )

decreased length of long bones ( J:253969 )

• newborn pups have shorter bones in the extremities

small thoracic cage ( J:253969 )

abnormal chondrocyte morphology ( J:253969 )

• assessment of chondrocytes in humeri finds swollen chondrocytes in some areas at E15.5 and widespread just after birth, and electron microscopy shows an increase in the size of the endoplasmic reticulum cisternae and disruption of the Golgi stack structure

chondrodystrophy ( J:253969 )

• severe

delayed bone mineralization ( J:253969 )

• newborn pups have decreased mineralization of the skull and vertebral column relative to controls

delayed endochondral bone ossification ( J:253969 )

• E15.5 humeri show delayed formation of the primary ossification center

limbs/digits/tail

short limbs ( J:253969 )

mortality/aging

perinatal lethality, complete penetrance ( J:253969 )

• although generated at the expected Mendelian frequency, these mice all die shortly after birth with severe chondrodysplasia

growth/size/body

short snout ( J:253969 )

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