Phenotypes for Fgfr3 MGI:3589422 MGI Mouse

mortality/aging

premature death ( J:32991 )

• mice die at various ages between 1 day and 8 months of age

postnatal lethality, incomplete penetrance ( J:32991 )

• 48% die between birth and 21 days of age

growth/size/body

decreased body weight ( J:32991 )

• weight ranges from 17-93% of that of controls

small thoracic cavity ( J:32991 )

hearing/vestibular/ear

abnormal cochlea morphology ( J:32991 )

• 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

abnormal organ of Corti morphology ( J:32991 )

abnormal pillar cell differentiation ( J:32991 )

abnormal cochlear outer hair cell morphology ( J:32991 )

• reduced innervation of outer hair cells

abnormal cochlear OHC efferent innervation pattern ( J:32991 )

increased Deiters cell number ( J:32991 )

• 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

absent pillar cells ( J:32991 )

• no recognizable inner and outer pillar cells between 15 days and 7 months of age

absent tunnel of Corti ( J:32991 )

increased or absent threshold for auditory brainstem response ( J:32991 )

• at 3 weeks to 6 months, homozygotes show no auditory brainstem responses at 100 dB SPL, indicating profound deafness

deafness ( J:32991 )

sensorineural hearing loss ( J:32991 )

skeleton

abnormal long bone morphology ( J:32991 )

abnormal humerus morphology ( J:32991 )

• overgrowth of the humerus in 6 month or older mice

bowed humerus ( J:32991 )

• 75% of 7 week or older mice exhibit increased curvature of the humerus

abnormal femur morphology ( J:32991 )

bowed femur ( J:32991 )

• increased curvature of the femur in 7 week or older mice

long femur ( J:32991 )

• femurs at 4.5 months of age or older are 6-27% longer than controls

abnormal long bone hypertrophic chondrocyte zone ( J:32991 )

• growth plates contain more hypertrophic chondrocytes than controls

increased width of hypertrophic chondrocyte zone ( J:32991 )

• consistent increase in the size of hypertrophic zones

• height of the proximal tibial hypertrophic zone at E18.5 and P1 is increased 33-50%

increased long bone epiphyseal plate size ( J:32991 )

• 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

abnormal axial skeleton morphology ( J:32991 )

abnormal rib morphology ( J:32991 )

• ribs are abnormally shaped, resulting in a reduction of thoracic cavity volume

kyphosis ( J:32991 )

• 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

scoliosis ( J:32991 )

• severe scoliosis, primarily in the cervical and upper thoracic spine

enlarged vertebral body ( J:32991 )

• overgrowth of the lumbar vertebral bodies in 6 month old mice

behavior/neurological

absent gastric milk in neonates ( J:32991 )

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

limbs/digits/tail