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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fgfr3tm1Cxd
targeted mutation 1, Chu-Xia Deng
MGI:2135666
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fgfr3tm1Cxd/Fgfr3tm1Cxd involves: 129S6/SvEvTac * NIH Black Swiss MGI:3586593
ht2
Fgfr3tm1Cxd/Fgfr3+ involves: 129S6/SvEvTac * NIH Black Swiss MGI:3586595
cx3
Cdkn1atm1Led/Cdkn1atm1Led
Fgfr3tm1Cxd/Fgfr3tm1Cxd
involves: 129S6/SvEvTac * NIH Black Swiss MGI:3586597


Genotype
MGI:3586593
hm1
Allelic
Composition
Fgfr3tm1Cxd/Fgfr3tm1Cxd
Genetic
Background
involves: 129S6/SvEvTac * NIH Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3tm1Cxd mutation (0 available); any Fgfr3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• 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 ID Ref(s)
Achondroplasia; ACH 100800 J:52438
NOT Thanatophoric Dysplasia, Type I; TD1 187600 J:52438




Genotype
MGI:3586595
ht2
Allelic
Composition
Fgfr3tm1Cxd/Fgfr3+
Genetic
Background
involves: 129S6/SvEvTac * NIH Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3tm1Cxd mutation (0 available); any Fgfr3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• about 90% of controls

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




Genotype
MGI:3586597
cx3
Allelic
Composition
Cdkn1atm1Led/Cdkn1atm1Led
Fgfr3tm1Cxd/Fgfr3tm1Cxd
Genetic
Background
involves: 129S6/SvEvTac * NIH Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdkn1atm1Led mutation (1 available); any Cdkn1a mutation (46 available)
Fgfr3tm1Cxd mutation (0 available); any Fgfr3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

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





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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory