Mouse Genome Informatics
hm
    Fgfr3tm1Dor/Fgfr3tm1Dor
involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 48% die between birth and 21 days of age
• mice die at various ages between 1 day and 8 months of age

growth/size
• weight ranges from 17-93% of that of controls

hearing/vestibular/ear
• adult cochleas resemble those of normal newborn mice
• the blood vessel below the basilar membrane is patent and numerous mesothelial cells are present below the basilar membrane
• reduced innervation of outer hair cells
• as expected, homozygotes exhibit one row of Deiters' cells beneath each of the 3-4 rows of OHCs
• however, homozygotes also have two rows of "Deiters'-like cells", probably due to failure of these cells to develop into pillar cells
• no recognizable inner and outer pillar cells between 15 days and 7 months of age
• at 3 weeks to 6 months, homozygotes show no auditory brainstem responses at 100 dB SPL, indicating profound deafness

skeleton
• overgrowth of the humerus in 6 month or older mice
• 75% of 7 week or older mice exhibit increased curvature of the humerus
• increased curvature of the femur in 7 week or older mice
• femurs at 4.5 months of age or older are 6-27% longer than controls
• growth plates contain more hypertrophic chondrocytes than controls
• consistent increase in the size of hypertrophic zones
• height of the proximal tibial hypertrophic zone at E18.5 and P1 is increased 33-50%
• growth plates of long bones are longer at 3 weeks of age
• acellular bands in growth plates are narrower and less numerous than in controls
• ribs are abnormally shaped, resulting in a reduction of thoracic cavity volume
• primarily in the cervical and upper thoracic spine
• first observed at 1 week after birth and develops in all mice by several months of age
• severe scoliosis, primarily in the cervical and upper thoracic spine
• overgrowth of the lumbar vertebral bodies in 6 month old mice

behavior/neurological
• several hours after birth, have smaller milk spots, indicating poor nursing

limbs/digits/tail
• overgrowth of the humerus in 6 month or older mice
• 75% of 7 week or older mice exhibit increased curvature of the humerus
• increased curvature of the femur in 7 week or older mice
• femurs at 4.5 months of age or older are 6-27% longer than controls
• tail kinks or bends are first observed at P1 and develop in 72% of mice

nervous system
• reduced innervation of outer hair cells

cellular

Mouse Models of Human Disease
OMIM IDRef(s)
NOT Achondroplasia; ACH 100800 J:32991
NOT Hypochondroplasia; HCH 146000 J:32991