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Phenotypes Associated with This Genotype
Genotype
MGI:3846228
Allelic
Composition
\Mbtps1tm1Jdh/\Mbtps1tm1Jdh
\Tg(Col2a1-cre)1Bhr/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbtps1tm1Jdh mutation (1 available); any Mbtps1 mutation (71 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Severe chondrodysplasia in Mbtps1tm1Jdh/Mbtps1tm1Jdh Tg(Col2a1-cre)1Bhr/0 mice

mortality/aging
• mice die during or shortly after birth

skeleton
• all skeletal elements are smaller than in wild-type mice
• the chondro-cranial base is shortened compared to in wild-type mice
• at E14.5, endochondral chondrocytes fail to exhibit a change from proliferation to hypertrophic cells unlike in wild-type mice
• at E15.5, mice lack an organized hypertrophic zone unlike wild-type mice
• differentiation of hypertrophic chonndrocytes is incomplete
• chondrocytes exhibit abnormal mineralization that precludes vascularization of skeletal elements
• the skull bones exhibit increased sensitivity to potassium hydroxide compared to wild-type bones
• mice exhibit abnomal mineralization of hypertrophic chondrocytes in long bones that is associated with increased chondrocyte apoptosis unlike in wild-type mice

growth/size/body
• mice are born with protruding tongues
• mice are small at birth
• the chest cavity is small and compresses the internal organs into the abdominal cavity unlike in wild-type mice

craniofacial
• the chondro-cranial base is shortened compared to in wild-type mice
• mice are born with protruding tongues

digestive/alimentary system
• mice are born with protruding tongues

limbs/digits/tail
• the orientation of the limbs is skewed likely due to abnormal articular joint development


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory