Phenotypes Associated with This Genotype

Genotype
MGI:3639744

• Allelic Composition: Fgfr3^tm2Wei/Fgfr3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * MF1

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Anatomical defects of the Fgfr3^tm2Wei/Fgfr3⁺ mouse

growth/size/body

long incisors ( J:54829 )

• overgrowth of incisor teeth

misaligned incisors ( J:54829 )

• incisors do not align properly and protrude because of changes in the skull

malocclusion ( J:54829 )

• abnormal closure of the upper and lower incisors

short nasal bone ( J:54829 )

• extreme shortening of the nasal bone

round head ( J:54829 )

• rounded head is seen as early as 10 days of age

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

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

short frontal bone ( J:54829 )

• extreme shortening and distortion of the frontal bone

abnormal parietal bone morphology ( J:54829 )

• distortion of the parietal bones

long incisors ( J:54829 )

• overgrowth of incisor teeth

misaligned incisors ( J:54829 )

• incisors do not align properly and protrude because of changes in the skull

malocclusion ( J:54829 )

• abnormal closure of the upper and lower incisors

abnormal maxilla morphology ( J:54829 )

• distortion of the maxilla

short nasal bone ( J:54829 )

• extreme shortening of the nasal bone

short tibia ( J:54829 )

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

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

short frontal bone ( J:54829 )

• extreme shortening and distortion of the frontal bone

abnormal parietal bone morphology ( J:54829 )

• distortion of the parietal bones

long incisors ( J:54829 )

• overgrowth of incisor teeth

misaligned incisors ( J:54829 )

• incisors do not align properly and protrude because of changes in the skull

malocclusion ( J:54829 )

• abnormal closure of the upper and lower incisors

abnormal maxilla morphology ( J:54829 )

• distortion of the maxilla

short nasal bone ( J:54829 )

• extreme shortening of the nasal bone

round head ( J:54829 )

• rounded head is seen as early as 10 days of age

limbs/digits/tail

short tibia ( J:54829 )

respiratory system

short nasal bone ( J:54829 )

• extreme shortening of the nasal bone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:54829