Mouse Genome Informatics
ht
    Fgfr3tm1Llm/Fgfr3+
involves: 129S2/SvPas
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
growth/size
• weight is 47% that of wild-type mice at 17 days of age
• head anterior-posterior length is 70% of that in wild-type mice at 17 days of age
• naso-anal length is 65% of that in wild-type mice at 17 days of age
• 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
• the lateral diameters of the foramen magnum are about 70% of those of wild-type mice
• foramen magnum stenosis
• anterior crossbite

limbs/digits/tail
• 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
• tibia length is 42% of that in wild-type mice at 17 days of age
• tail length is 52% of that in wild-type mice at 17 days of age

skeleton
• the lateral diameters of the foramen magnum are about 70% of those of wild-type mice
• foramen magnum stenosis
• anterior crossbite
• 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
• tibia length is 42% of that in wild-type mice at 17 days of age
• cervical vertebrae abnormalities
• lumbar vertebrae L4-L6 length is 71% of that in wild-type mice at 17 days of age
• cervico-medullary and upper-spinal-cord compression due to a reduced size of the foramen magnum
• growth-plate abnormalities, including lack of columnar arrangement and abnormal shape and smaller hypertrophic cells
• reduction in prehypertrophic and hypertrophic zones
• growth deficit affecting both endochondral and membranous ossification
• growth deficit affecting both endochondral and membranous ossification

Mouse Models of Human Disease
OMIM IDRef(s)
Achondroplasia; ACH 100800 J:203653