Phenotypes associated with this allele

• Allele Symbol: Trip11^tm1.2Psmi
• Allele Name: targeted mutation 1.2, Patrick Smits
• Allele ID: MGI:6154133
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Bhlha15^tm3(cre/ERT2)Skz/? Gt(ROSA)26Sor^tm4(ACTB-tdTomato,-EGFP)Luo/? Trip11^tm1.1Psmi/Trip11^tm1.2Psmi	involves: 129/Sv * C57BL/6	MGI:6154165
cn2	Tg(VAV1-cre)1Graf/? Gt(ROSA)26Sor^tm4(ACTB-tdTomato,-EGFP)Luo/? Trip11^tm1.1Psmi/Trip11^tm1.2Psmi	involves: 129/Sv * C57BL/6	MGI:6154234
cn3	Gt(ROSA)26Sor^tm4(ACTB-tdTomato,-EGFP)Luo/? Tg(BGLAP-cre)1Clem/? Trip11^tm1.1Psmi/Trip11^tm1.2Psmi	involves: 129/Sv * C57BL/6 * FVB/NJ	MGI:6154164
cn4	Trip11^tm1.1Psmi/Trip11^tm1.2Psmi Gt(ROSA)26Sor^tm4(ACTB-tdTomato,-EGFP)Luo/? Tg(Col2a1-cre)1Bhr/?	involves: 129/Sv * C57BL/6 * SJL/J	MGI:6154156
cn5	Trip11^tm1.1Psmi/Trip11^tm1.2Psmi Gt(ROSA)26Sor^tm4(ACTB-tdTomato,-EGFP)Luo/? Tg(CAG-cre/Esr1*)5Amc/?	involves: 129/Sv * C57BL/6 * SJL/J	MGI:6154270
cx6	Tg(EIIa-cre)C5379Lmgd/? Trip11^tm1.2Psmi/Trip11^tm1.2Psmi	involves: 129/Sv * C57BL/6 * FVB/N	MGI:6154152

Genotype
MGI:6154165

cn1

• Allelic Composition: Bhlha15^{tm3(cre/ERT2)Skz}/?; Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/?; Trip11^tm1.1Psmi/Trip11^tm1.2Psmi
• Genetic Background: involves: 129/Sv * C57BL/6

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

normal phenotype

no abnormal phenotype detected ( J:253969 )

• despite the absence of a gene invovled in vesicle transport, no swelling of the endoplasmic reticulum cisternae is found in the acinar cells of the adult pancreas

Genotype
MGI:6154234

cn2

• Allelic Composition: Tg(VAV1-cre)1Graf/?; Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/?; Trip11^tm1.1Psmi/Trip11^tm1.2Psmi
• Genetic Background: involves: 129/Sv * C57BL/6

immune system

immune system phenotype ( J:253969 )

N • normal IgG secretion

skeleton

skeleton phenotype ( J:253969 )

N • these mice, which have a hemotopoietic conditional null of a gene involved in vesicle transport, develop normally with both endochondral and intramembranous bones being of normal size and mineralization, the osteoblasts have normal Golgi apparatus stack structure and no swelling of the endoplasmic, the humeri at birth show normal trabeculae, cortical bone, and bone marrow, and micro CT measurements at 6 weeks of age are normal, so osteoblast and osteoclast function appear normal

Genotype
MGI:6154164

cn3

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

cellular

abnormal Golgi stack morphology ( J:253969 )

• humeral osteoblasts have no swelling of the endoplasmic reticulum, but do have an abnormal Golgi apparatus stack structure

skeleton

skeleton phenotype ( J:253969 )

N • despite the osteoblast-specific disruption of a gene invovled in vesicle transport, these mice develop normally with both endochondral and intramembranous bones being of normal size and mineralization, and the osteoblasts having no swelling of the endoplasmic reticulum, although the osteoblast Golgi apparatus stack structure is not normal, and at 6 weeks of age micro CT measurements are normal

Genotype
MGI:6154156

cn4

• 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

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

Genotype
MGI:6154270

cn5

• Allelic Composition: Trip11^tm1.1Psmi/Trip11^tm1.2Psmi; Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/?; Tg(CAG-cre/Esr1*)5Amc/?
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL/J

cellular

abnormal Golgi vesicle transport ( J:253969 )

• primary chondrocyte cultures treated with tamoxifen to inactivate the loxP-flanked allele have a change in the protein profile in the proteomes with many of the proteins with altered expression playing a role in membrane trafficking or Golgi/endoplasmic reticulum function, so while chondrocyte secretion continues to function the specific set of secreted proteins differs

Genotype
MGI:6154152

cx6

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

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