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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(Col2a1-PTHR1*H223R)BHju
transgene insertion B, Harald Juppner
MGI:3584015
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
tg1
Tg(Col2a1-PTHR1*H223R)BHju/Tg(Col2a1-PTHR1*H223R)BHju involves: FVB/N MGI:3584026
tg2
Tg(Col2a1-PTHR1*H223R)BHju/0 involves: FVB/N MGI:3584029


Genotype
MGI:3584026
tg1
Allelic
Composition
Tg(Col2a1-PTHR1*H223R)BHju/Tg(Col2a1-PTHR1*H223R)BHju
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal images of wild-type and Tg(Col2a1-PTHR1*H223R)BHju/Tg(Col2a1-PTHR1*H223R)BHju mice

limbs/digits/tail
• short and deformed hindlimbs
• shorter and thicker

skeleton
• shorter and thicker
• metaphysis is widened in the hindlimbs
• ossification centers of vertebrae are reduced in size
• chondrocyte hypertrophy and subsequent blood vessel invasion begins at the periphery of the diaphysis and not in the center of the tibia
• at birth, show reduced or absent mineralization of many elements that develop by endochondral bone formation such as the supraoccipital bone, sternum, ischium and pubic bone and have severe mineralization defects of the radius and metatarsal bones
• more pronounced than in Tg(Col2a1-PTHR1*H223R))AHju
• tibiae of newborns consist mainly of proliferative and hypertrophic chondrocytes

Mouse Models of Human Disease
OMIM ID Ref(s)
Metaphyseal Chondrodysplasia, Jansen Type 156400 J:77639




Genotype
MGI:3584029
tg2
Allelic
Composition
Tg(Col2a1-PTHR1*H223R)BHju/0
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• less pronounced than in homozygous transgenic mice





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory