Mouse Genome Informatics
ht1
     Fgfr3tm2Wei/Fgfr3+
involves: 129S1/Sv * 129X1/SvJ * MF1
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype

Anatomical defects of the Fgfr3tm2Wei/Fgfr3+ mouse

growth/size
disproportionate dwarf ( J:54829 )
• weight is half or less that of wild-type
• when teeth are shortened to allow normal food intake, the weight still does not exceed 60% of the wild-type

skeleton
abnormal cranium morphology ( J:54829 )
• rounding of the braincase
short frontal bone ( J:54829 )
• extreme shortening and distortion of the frontal bone
abnormal foramen magnum morphology ( J:54829 )
• ventral and anterior shift of the interparietal and occipital bones which brings the foramen magnum to the base of the skull
abnormal parietal bone morphology ( J:54829 )
• distortion of the parietal bones
abnormal maxilla morphology ( J:54829 )
• distortion of the maxilla
short nasal bone ( J:54829 )
• extreme shortening of the nasal bone
malocclusion ( J:54829 )
• incisors do not align properly and protrude because of changes in the skull
abnormal long bone epiphyseal plate proliferative zone ( J:54829 )
• proliferative zone is devoid of the characteristic chondrocyte columns
decreased width of hypertrophic chondrocyte zone ( J:54829 )
• hypertrophic zone is considerably reduced or absent
decreased long bone epiphyseal plate size ( J:54829 )
• shortening and disorganization of the growth plate
disorganized long bone epiphyseal plate ( J:54829 )
• shortening and disorganization of the growth plate
kyphosis ( J:54829 )
• show an overt anterior gibbus probably due to the nearly perpendicular angle between the skull and the cervical vertebrae

craniofacial
abnormal cranium morphology ( J:54829 )
• rounding of the braincase
short frontal bone ( J:54829 )
• extreme shortening and distortion of the frontal bone
abnormal foramen magnum morphology ( J:54829 )
• ventral and anterior shift of the interparietal and occipital bones which brings the foramen magnum to the base of the skull
abnormal parietal bone morphology ( J:54829 )
• distortion of the parietal bones
abnormal maxilla morphology ( J:54829 )
• distortion of the maxilla
short nasal bone ( J:54829 )
• extreme shortening of the nasal bone
malocclusion ( J:54829 )
• incisors do not align properly and protrude because of changes in the skull
abnormal head morphology ( J:54829 )
• rounded head is seen as early as 10 days of age
abnormal incisor morphology ( J:54829 )
• incisors do not align properly and protrude because of changes in the skull
long incisors ( J:54829 )
• overgrowth or incisor teeth

limbs/digits/tail

Mouse Models of Human Disease
 OMIM IDRef(s)
Achondroplasia; ACH 100800 J:54829