Phenotypes Associated with This Genotype

Genotype
MGI:3586593

• Allelic Composition: Fgfr3^tm1Cxd/Fgfr3^tm1Cxd
• Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

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

growth/size/body

decreased body weight ( J:52438 )

• about 70% of controls

megacephaly ( J:52438 )

disproportionate dwarf ( J:52438 )

limbs/digits/tail

short humerus ( J:52438 )

• humeri lengths are 76% and 70% of wild-type at P20 and P90, respectively

short femur ( J:52438 )

• femur lengths are 68% and 65% of wild-type at P20 and P90, respectively

short tail ( J:52438 )

• tails grow more slowly and stay at about 70% of controls

skeleton

abnormal skeleton morphology ( J:52438 )

• shortening of the length of all bones formed by endochondral ossification

short humerus ( J:52438 )

• humeri lengths are 76% and 70% of wild-type at P20 and P90, respectively

short femur ( J:52438 )

• femur lengths are 68% and 65% of wild-type at P20 and P90, respectively

abnormal long bone epiphyseal plate morphology ( J:52438 )

• maturation zone is smaller and very disorganized

abnormal long bone epiphyseal plate proliferative zone ( J:52438 )

• proliferation zone is smaller and very disorganized

decreased width of hypertrophic chondrocyte zone ( J:52438 )

increased long bone epiphyseal plate size ( J:52438 )

• wider growth plates due to the expansion of the zone of resting chondrocytes

short vertebral body ( J:52438 )

• decrease in the interpedicular distances between vertebral bodies that is proportional to the reduction in the lengths of vertebral bodies

short vertebral column ( J:52438 )

• spinal column lengths are 83% of wild-type

abnormal chondrocyte morphology ( J:52438 )

• activity of proliferating chondrocytes is reduced in the growth plate

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:52438
NOT	thanatophoric dysplasia	DOID:13481	OMIM:187600 OMIM:187601 OMIM:273680	J:52438