Phenotypes associated with this allele

• Allele Symbol: Tg(Col2a1-cre)10Amc
• Allele Name: transgene insertion 10, Andrew P McMahon
• Allele ID: MGI:2176264
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Pkd1^tm3Jzh/Pkd1^tm3Jzh Tg(Col2a1-cre)10Amc/0	involves: 129P2/OlaHsd	MGI:5438955
cn2	Kif3a^tm2Gsn/Kif3a^tm2Gsn Tg(Col2a1-cre)10Amc/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5438954
cn3	Ihh^tm1Blan/Ihh^tm1Blan Tg(Col2a1-cre)10Amc/0	involves: 129S4/SvJae * C57BL/6	MGI:3620218
cn4	Smo^tm1Amc/Smo^tm2Amc Tg(Col2a1-cre)10Amc/0	involves: 129X1/SvJ	MGI:3584111

Genotype
MGI:5438955

cn1

• Allelic Composition: Pkd1^tm3Jzh/Pkd1^tm3Jzh; Tg(Col2a1-cre)10Amc/0
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

postnatal lethality, complete penetrance ( J:140779 )

• all mice die 12 to 14 days after birth

skeleton

premature cranial synchondrosis closure ( J:140779 )

• mice exhibit premature closure of the cranial base synchondroses

abnormal compact bone morphology ( J:140779 )

• mice exhibit a mild reduction in cortical bone deposition

delayed intramembranous bone ossification ( J:140779 )

• mice exhibit delayed intramembranous bone deposition

craniofacial

premature cranial synchondrosis closure ( J:140779 )

• mice exhibit premature closure of the cranial base synchondroses

renal/urinary system

polycystic kidney ( J:140779 )

• mice develop a severe form of early postnatal polycystic kidney disease

growth/size/body

polycystic kidney ( J:140779 )

• mice develop a severe form of early postnatal polycystic kidney disease

Genotype
MGI:5438954

cn2

• Allelic Composition: Kif3a^tm2Gsn/Kif3a^tm2Gsn; Tg(Col2a1-cre)10Amc/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

growth/size/body

polycystic kidney ( J:140779 )

• all mice develop early postnatal polycystic kidney disease, as revealed at autopsy (P24)

disproportionate dwarf ( J:140779 )

• mice develop a severe form of dwarfism and have to be euthanized upon weaning

skeleton

abnormal basicranium morphology ( J:140779 )

• mice exhibit early postnatal obliteration of cranial base synchondroses

disorganized long bone epiphyseal plate ( J:140779 )

• mice exhibit highly disorganized growth plates in the long bones

abnormal endochondral bone ossification ( J:140779 )

• mice exhibit premature obliteration of growth plates at the sites of endochondral ossification

craniofacial

abnormal basicranium morphology ( J:140779 )

• mice exhibit early postnatal obliteration of cranial base synchondroses

renal/urinary system

polycystic kidney ( J:140779 )

• all mice develop early postnatal polycystic kidney disease, as revealed at autopsy (P24)

Genotype
MGI:3620218

cn3

• Allelic Composition: Ihh^tm1Blan/Ihh^tm1Blan; Tg(Col2a1-cre)10Amc/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6

mortality/aging

postnatal lethality ( J:102870 )

skeleton

abnormal basicranium morphology ( J:102870 )

• synchondrosis of some bones

abnormal sternum morphology ( J:102870 )

• synchondrosis

abnormal vertebrae morphology ( J:102870 )

• synchondrosis of some vertebrae

abnormal bone structure ( J:102870 )

absent compact bone ( J:102870 )

• absent

abnormal trabecular bone morphology ( J:102870 )

• absent

abnormal cartilage morphology ( J:102870 )

disorganized long bone epiphyseal plate ( J:102870 )

• no organized growth plate is seen instead hypertrophic cells are located in the center of the cartilage surrounded by undifferentiated chondrocytes

• at E16.5 there is about a 50% decrease in proliferation of chondrocytes

abnormal synchondrosis ( J:102870 )

• synchondrosis of some bones of the skull base, vertebrae, and sternum

chondrodystrophy ( J:102870 )

• in the long bones

• dysregulation of chondrocyte maturation

abnormal bone ossification ( J:102870 )

• at E18.5 in the radius mineralization occurs in the center of the cartilage and not associated with a bone collar

• only hypertrophic chondrocytes located in the center of the cartilage show signs of mineralization

delayed endochondral bone ossification ( J:102870 )

• in general mineralization is delayed until E16.5, with severely affected bones showing greater delays

• mineralization of the radius is initiated in the center of the cartilage at E18.5

• at E18.5, dorsal portions of the ribs and distal parts of the long bones show essentially no mineralization

• however, intramembranous bone formation appears normal

limbs/digits/tail

abnormal digit morphology ( J:102870 )

• failure of digit segmentation

short limbs ( J:102870 )

• detectable at E14.5

craniofacial

abnormal basicranium morphology ( J:102870 )

• synchondrosis of some bones

Genotype
MGI:3584111

cn4

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; Tg(Col2a1-cre)10Amc/0
• Genetic Background: involves: 129X1/SvJ

cellular

decreased chondrocyte proliferation ( J:73071 )

• decrease in chondrocyte proliferation at E14.5, however chondrocyte differentiation proceeds normally

mortality/aging

postnatal lethality, complete penetrance ( J:73071 )

• small number of mutant pups survive for up to 9 days postpartum

skeleton

decreased chondrocyte proliferation ( J:73071 )

• decrease in chondrocyte proliferation at E14.5, however chondrocyte differentiation proceeds normally

decreased length of long bones ( J:73071 )

• shorter long bones with no growth of long bones after birth and defects more severe than in mutants carrying Tg(Col2a1-cre)15Amc or Tg(Col2a1-cre)3Amc

short humerus ( J:73071 )

short ulna ( J:73071 )

• short ulna

short fibula ( J:73071 )

short tibia ( J:73071 )

• almost no growth of tibia after birth

short scapula ( J:73071 )

• length of scapula is shorter

abnormal skeleton development ( J:73071 )

• skeletal growth retardation

limbs/digits/tail

abnormal digit morphology ( J:73071 )

• failure of digit segmentation and ossification

short humerus ( J:73071 )

short ulna ( J:73071 )

• short ulna

short fibula ( J:73071 )

short tibia ( J:73071 )

• almost no growth of tibia after birth

short limbs ( J:73071 )

• 40-50% reduction in the length of the stylopod and the zeugopod at birth