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Phenotypes Associated with This Genotype
Genotype
MGI:3589422
Allelic
Composition
Fgfr3tm1Dor/Fgfr3tm1Dor
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3tm1Dor mutation (1 available); any Fgfr3 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 48% die between birth and 21 days of age (J:32991)
• 48% die between birth and 21 days of age (J:32991)
• mice die at various ages between 1 day and 8 months of age (J:32991)
• mice die at various ages between 1 day and 8 months of age (J:32991)

growth/size/body
• weight ranges from 17-93% of that of controls (J:32991)
• weight ranges from 17-93% of that of controls (J:32991)

hearing/vestibular/ear
• adult cochleas resemble those of normal newborn mice (J:32991)
• the blood vessel below the basilar membrane is patent and numerous mesothelial cells are present below the basilar membrane (J:32991)
• adult cochleas resemble those of normal newborn mice (J:32991)
• the blood vessel below the basilar membrane is patent and numerous mesothelial cells are present below the basilar membrane (J:32991)
• reduced innervation of outer hair cells (J:32991)
• reduced innervation of outer hair cells (J:32991)
• as expected, homozygotes exhibit one row of Deiters' cells beneath each of the 3-4 rows of OHCs (J:32991)
• however, homozygotes also have two rows of "Deiters'-like cells", probably due to failure of these cells to develop into pillar cells (J:32991)
• as expected, homozygotes exhibit one row of Deiters' cells beneath each of the 3-4 rows of OHCs (J:32991)
• however, homozygotes also have two rows of "Deiters'-like cells", probably due to failure of these cells to develop into pillar cells (J:32991)
• no recognizable inner and outer pillar cells between 15 days and 7 months of age (J:32991)
• no recognizable inner and outer pillar cells between 15 days and 7 months of age (J:32991)
• at 3 weeks to 6 months, homozygotes show no auditory brainstem responses at 100 dB SPL, indicating profound deafness (J:32991)
• at 3 weeks to 6 months, homozygotes show no auditory brainstem responses at 100 dB SPL, indicating profound deafness (J:32991)

skeleton
• overgrowth of the humerus in 6 month or older mice (J:32991)
• overgrowth of the humerus in 6 month or older mice (J:32991)
• 75% of 7 week or older mice exhibit increased curvature of the humerus (J:32991)
• 75% of 7 week or older mice exhibit increased curvature of the humerus (J:32991)
• increased curvature of the femur in 7 week or older mice (J:32991)
• increased curvature of the femur in 7 week or older mice (J:32991)
• femurs at 4.5 months of age or older are 6-27% longer than controls (J:32991)
• femurs at 4.5 months of age or older are 6-27% longer than controls (J:32991)
• growth plates contain more hypertrophic chondrocytes than controls (J:32991)
• growth plates contain more hypertrophic chondrocytes than controls (J:32991)
• consistent increase in the size of hypertrophic zones (J:32991)
• height of the proximal tibial hypertrophic zone at E18.5 and P1 is increased 33-50% (J:32991)
• consistent increase in the size of hypertrophic zones (J:32991)
• height of the proximal tibial hypertrophic zone at E18.5 and P1 is increased 33-50% (J:32991)
• growth plates of long bones are longer at 3 weeks of age (J:32991)
• acellular bands in growth plates are narrower and less numerous than in controls (J:32991)
• growth plates of long bones are longer at 3 weeks of age (J:32991)
• acellular bands in growth plates are narrower and less numerous than in controls (J:32991)
• ribs are abnormally shaped, resulting in a reduction of thoracic cavity volume (J:32991)
• ribs are abnormally shaped, resulting in a reduction of thoracic cavity volume (J:32991)
• primarily in the cervical and upper thoracic spine (J:32991)
• first observed at 1 week after birth and develops in all mice by several months of age (J:32991)
• primarily in the cervical and upper thoracic spine (J:32991)
• first observed at 1 week after birth and develops in all mice by several months of age (J:32991)
• severe scoliosis, primarily in the cervical and upper thoracic spine (J:32991)
• severe scoliosis, primarily in the cervical and upper thoracic spine (J:32991)
• overgrowth of the lumbar vertebral bodies in 6 month old mice (J:32991)
• overgrowth of the lumbar vertebral bodies in 6 month old mice (J:32991)

behavior/neurological
• several hours after birth, have smaller milk spots, indicating poor nursing (J:32991)
• several hours after birth, have smaller milk spots, indicating poor nursing (J:32991)

limbs/digits/tail
• overgrowth of the humerus in 6 month or older mice (J:32991)
• overgrowth of the humerus in 6 month or older mice (J:32991)
• 75% of 7 week or older mice exhibit increased curvature of the humerus (J:32991)
• 75% of 7 week or older mice exhibit increased curvature of the humerus (J:32991)
• increased curvature of the femur in 7 week or older mice (J:32991)
• increased curvature of the femur in 7 week or older mice (J:32991)
• femurs at 4.5 months of age or older are 6-27% longer than controls (J:32991)
• femurs at 4.5 months of age or older are 6-27% longer than controls (J:32991)
• tail kinks or bends are first observed at P1 and develop in 72% of mice (J:32991)
• tail kinks or bends are first observed at P1 and develop in 72% of mice (J:32991)

nervous system
• reduced innervation of outer hair cells (J:32991)
• reduced innervation of outer hair cells (J:32991)

cellular

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory