Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm3Jzh mutation
(0 available);
any
Pkd1 mutation
(153 available)
Tg(Col2a1-cre)10Amc mutation
(0 available)
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mortality/aging
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• all mice die 12 to 14 days after birth
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skeleton
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• mice exhibit premature closure of the cranial base synchondroses
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• mice exhibit a mild reduction in cortical bone deposition
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• mice exhibit delayed intramembranous bone deposition
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craniofacial
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• mice exhibit premature closure of the cranial base synchondroses
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renal/urinary system
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• mice develop a severe form of early postnatal polycystic kidney disease
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growth/size/body
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• mice develop a severe form of early postnatal polycystic kidney disease
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif3atm2Gsn mutation
(1 available);
any
Kif3a mutation
(31 available)
Tg(Col2a1-cre)10Amc mutation
(0 available)
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growth/size/body
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• all mice develop early postnatal polycystic kidney disease, as revealed at autopsy (P24)
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• mice develop a severe form of dwarfism and have to be euthanized upon weaning
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skeleton
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• mice exhibit early postnatal obliteration of cranial base synchondroses
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• mice exhibit highly disorganized growth plates in the long bones
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• mice exhibit premature obliteration of growth plates at the sites of endochondral ossification
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craniofacial
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• mice exhibit early postnatal obliteration of cranial base synchondroses
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renal/urinary system
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• all mice develop early postnatal polycystic kidney disease, as revealed at autopsy (P24)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihhtm1Blan mutation
(1 available);
any
Ihh mutation
(22 available)
Tg(Col2a1-cre)10Amc mutation
(0 available)
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mortality/aging
skeleton
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• synchondrosis of some bones
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• synchondrosis of some vertebrae
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• 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
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• synchondrosis of some bones of the skull base, vertebrae, and sternum
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• in the long bones
• dysregulation of chondrocyte maturation
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• 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
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• 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
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limbs/digits/tail
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• failure of digit segmentation
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craniofacial
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• synchondrosis of some bones
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smotm1Amc mutation
(1 available);
any
Smo mutation
(39 available)
Smotm2Amc mutation
(1 available);
any
Smo mutation
(39 available)
Tg(Col2a1-cre)10Amc mutation
(0 available)
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cellular
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• decrease in chondrocyte proliferation at E14.5, however chondrocyte differentiation proceeds normally
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mortality/aging
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• small number of mutant pups survive for up to 9 days postpartum
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skeleton
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• decrease in chondrocyte proliferation at E14.5, however chondrocyte differentiation proceeds normally
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• 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
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• almost no growth of tibia after birth
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• length of scapula is shorter
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• skeletal growth retardation
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limbs/digits/tail
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• failure of digit segmentation and ossification
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• almost no growth of tibia after birth
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• 40-50% reduction in the length of the stylopod and the zeugopod at birth
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Analysis Tools