Phenotypes Associated with This Genotype

Genotype
MGI:5551435

• Allelic Composition: Fgfr3^tm1Llm/Fgfr3⁺
• Genetic Background: involves: 129S2/SvPas

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

growth/size/body

small snout ( J:203653 )

decreased body weight ( J:203653 )

• weight is 47% that of wild-type mice at 17 days of age

abnormal head size ( J:203653 )

• head anterior-posterior length is 70% of that in wild-type mice at 17 days of age

decreased body length ( J:203653 )

• naso-anal length is 65% of that in wild-type mice at 17 days of age

disproportionate dwarf ( J:203653 )

• disproportionate short stature

• mutants show about 50% of the length of the appendicular skeleton and about 70% of the length of the axial skeleton of those of wild-type mice

• treatment of mice at 7 days of age with the CNP analog, BMN 111, for 10 or 20 days, leads to improvement in dwarfism

craniofacial

foramen magnum stenosis ( J:203653 )

• the lateral diameters of the foramen magnum are about 70% of those of wild-type mice

• foramen magnum stenosis

prognathia ( J:203653 )

• anterior crossbite

domed cranium ( J:203653 )

small snout ( J:203653 )

limbs/digits/tail

short femur ( J:203653 )

• femur lengths are slightly shorter than wild-type at E16.5

• femur lengths are 54% that of wild-type mice at 17 days of age

short tibia ( J:203653 )

• tibia length is 42% of that in wild-type mice at 17 days of age

short tail ( J:203653 )

• tail length is 52% of that in wild-type mice at 17 days of age

skeleton

foramen magnum stenosis ( J:203653 )

• the lateral diameters of the foramen magnum are about 70% of those of wild-type mice

• foramen magnum stenosis

prognathia ( J:203653 )

• anterior crossbite

domed cranium ( J:203653 )

short femur ( J:203653 )

• femur lengths are slightly shorter than wild-type at E16.5

• femur lengths are 54% that of wild-type mice at 17 days of age

short tibia ( J:203653 )

• tibia length is 42% of that in wild-type mice at 17 days of age

abnormal cervical vertebrae morphology ( J:203653 )

• cervical vertebrae abnormalities

short lumbar vertebrae ( J:203653 )

• lumbar vertebrae L4-L6 length is 71% of that in wild-type mice at 17 days of age

vertebral compression ( J:203653 )

• cervico-medullary and upper-spinal-cord compression due to a reduced size of the foramen magnum

abnormal epiphyseal plate morphology ( J:203653 )

• growth-plate abnormalities, including lack of columnar arrangement and abnormal shape and smaller hypertrophic cells

abnormal long bone hypertrophic chondrocyte zone ( J:203653 )

• reduction in prehypertrophic and hypertrophic zones

abnormal endochondral bone ossification ( J:203653 )

• growth deficit affecting both endochondral and membranous ossification

abnormal intramembranous bone ossification ( J:203653 )

• growth deficit affecting both endochondral and membranous ossification

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:203653