Mouse Genome Informatics
ht
    Fgfr3tm5.1Cxd/Fgfr3+
involves: 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• many mutants die between 1 week and 6 months of age: if overgrown incisors are cut weekly to allow normal eating and drinking, some mutants survive up to 6 months of age

growth/size/body
• exhibit longer incisors
• severe dwarfism

skeleton
• shorter cranial base due to premature fusion and ossification of synochondroses
• skulls are reduced in size along the anteroposterior axis
• skulls are slightly larger along the left-right and dorsal-ventral axes
• skulls become progressively more dome-shaped as mice age
• some exhibit bowed fibulas
• some exhibit bowed tibias
• chondrocyte columns are markedly shorter
• chondrocytes in the maturing zone sometimes mingle with those in the hypertrophic zone in younger mice
• prehypertrophic chondrocyte-like cells are often seen in resting or proliferating zones
• fewer proliferating chondrocytes at P30
• hypertrophic chondrocytes are reduced in number at ages between E17.5 and P45
• less well differentiated small spherical chondrocytes, some of which are directly opposed to the ossification front, invade the hypertrophic zone
• growth plates of P30 or older mutants are narrower with fewer proliferating and hypertrophic chondrocytes
• growth plates are disorganized by E17.5 and show no clear boundaries between zones
• reduction in length of long bones
• synochondroses fuse prematurely and ossify, resulting in shorter cranial base
• exhibit reduced chondrocyte proliferation and differentiation
• premature ossification of synochondroses

reproductive system
• 2 of 10 females mated with males produced one litter of offspring but they failed to produce subsequent litters, however no abnormalities are seen in the ovaries (J:67780)
• males are infertile although no apparent abnormalities are observed in the testes (J:67780)

craniofacial
• shorter cranial base due to premature fusion and ossification of synochondroses
• skulls are reduced in size along the anteroposterior axis
• skulls are slightly larger along the left-right and dorsal-ventral axes
• skulls become progressively more dome-shaped as mice age
• exhibit longer incisors

limbs/digits/tail
• some exhibit bowed fibulas
• some exhibit bowed tibias
• short tail bones

Mouse Models of Human Disease
OMIM IDRef(s)
Achondroplasia; ACH 100800 J:67780
Thanatophoric Dysplasia, Type I; TD1 187600 J:67780