Mouse Genome Informatics
hm1
    Fgfr3tm1Cxd/Fgfr3tm1Cxd
involves: 129S6/SvEvTac * NIH Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial

growth/size
• about 70% of controls

limbs/digits/tail
• humeri lengths are 76% and 70% of wild-type at P20 and P90, respectively
• femur lengths are 68% and 65% of wild-type at P20 and P90, respectively
• tails grow more slowly and stay at about 70% of controls

skeleton
• shortening of the length of all bones formed by endochondral ossification
• humeri lengths are 76% and 70% of wild-type at P20 and P90, respectively
• femur lengths are 68% and 65% of wild-type at P20 and P90, respectively
• maturation zone is smaller and very disorganized
• proliferation zone is smaller and very disorganized
• wider growth plates due to the expansion of the zone of resting chondrocytes
• decrease in the interpedicular distances between vertebral bodies that is proportional to the reduction in the lengths of vertebral bodies
• spinal column lengths are 83% of wild-type
• activity of proliferating chondrocytes is reduced in the growth plate

Mouse Models of Human Disease
OMIM IDRef(s)
Achondroplasia; ACH 100800 J:52438
NOT Thanatophoric Dysplasia, Type I; TD1 187600 J:52438


Mouse Genome Informatics
ht2
    Fgfr3tm1Cxd/Fgfr3+
involves: 129S6/SvEvTac * NIH Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• about 90% of controls

limbs/digits/tail
• intermediate length between wild-type and homozygous mutant mice


Mouse Genome Informatics
cx3
    Cdkn1atm1Led/Cdkn1atm1Led
Fgfr3tm1Cxd/Fgfr3tm1Cxd

involves: 129S6/SvEvTac * NIH Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size

skeleton
• length of all bones formed by endochondral ossification is shorter than in controls but no different from single homozygous Fgfr3tm1Cdx mutants
• exhibit similar growth plate defects as single homozygous Fgfr3tm1Cxd mutant mice