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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cant1tm1.2Aros
targeted mutation 1.2, Antonio Rossi
MGI:7264674
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cant1tm1.2Aros/Cant1tm1.2Aros involves: 129 * C57BL/6J MGI:7264693


Genotype
MGI:7264693
hm1
Allelic
Composition
Cant1tm1.2Aros/Cant1tm1.2Aros
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cant1tm1.2Aros mutation (0 available); any Cant1 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• adult mice at P60 are also smaller
• mice exhibit growth retardation and are smaller at P1 to P21, indicating a skeletal growth defect

limbs/digits/tail
• mice at P7, P14, and P21 exhibit the formation of an additional rudimentary phalanx called a delta phalanx at the extremities of hind limbs
• width of femurs is decreased in newborns, at P7, P14, and P21
• width of tibia is decreased in newborns, at P7, P14, and P21

skeleton
• mice at P7, P14, and P21 exhibit the formation of an additional rudimentary phalanx called a delta phalanx at the extremities of hind limbs
• width of femurs is decreased in newborns, at P7, P14, and P21
• width of tibia is decreased in newborns, at P7, P14, and P21
• reduction in length and width of the ilium
• a moderate thoracic kyphosis is seen from P21
• femoral head cartilage at P4 shows a less dense extracellular matrix
• at P7, the relative proliferative zone area is increased and correspondingly, the relative hypertrophic zone area is decreased, indicating an imbalance between the two growth plate zones
• proliferation and apoptosis imbalance in growth plates
• however, no disruption of the growth plate organization is seen at P21
• the height and area of the proliferative zone in P7 growth plates is reduced
• at P7, the proliferative zone shows a higher number of columns per area but the columns are shorter and with fewer cells compared to wild-type growth plates
• at P14, only the height of the columns in the proliferative zone is decreased compared to wild-type mice
• the height and area of the hypertrophic zone in P7 and P14 cartilage is reduced
• at P7, the hypertrophic zone shows a higher number of columns per area but the columns are shorter and with fewer cells compared to wild-type growth plates
• at P14, only the height of the columns in the hypertrophic zone is decreased compared to wild-type mice
• the average height of the most terminal hypertrophic chondrocytes in the growth plate is decreased compared to wild-type at all ages
• chondrocytes show endoplasmic reticulum (ER) enlargement with retained proteinaceous material in P4 mice
• however, ER stress is not detected
• mice exhibit a chondrodysplastic phenotype
• defects in endochondral ossification
• delay in the formation of secondary ossification center is seen at all ages
• primary chondrocyte cultures from rib cartilage show reduced proteoglycan synthesis and proteoglycan secretion
• GAG content in femoral head cartilage of P4 mice treated with proteinase K is reduced, indicating reduced proteoglycan content in cartilage
• the percentage of apoptotic chondrocytes in the proliferative zone of P7 is increased, whereas no difference is seen in the hypertrophic zone at P7 or P14
• the percentage of proliferating chondrocytes is increased at P7 and P14, with no differences at P21

cellular
• the percentage of apoptotic chondrocytes in the proliferative zone of P7 is increased, whereas no difference is seen in the hypertrophic zone at P7 or P14
• the percentage of proliferating chondrocytes is increased at P7 and P14, with no differences at P21

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Desbuquois dysplasia DOID:0060462 OMIM:251450
OMIM:615777
J:282272





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
09/22/2022
MGI 6.21
The Jackson Laboratory