Phenotypes Associated with This Genotype

Genotype
MGI:3831374

• Allelic Composition: Fgfr3^tm1.1Aomw/Fgfr3^tm1.1Aomw
• Genetic Background: B6.129P2-Fgfr3^tm1.1Aomw

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

craniofacial

abnormal craniofacial morphology ( J:143356 , J:144356 )

• abnormalities are seen in 75% of mice (J:143356)

• Background Sensitivity: craniofacial abnormalities are more severe on a congenic C57BL/6 background compared to mice on a BALB/c, congenic background (J:144356)

• there is a significant sex bias in the penetrance of craniofacial abnormalities with males more severely affected compared to females (J:144356)

abnormal cranium morphology ( J:144356 )

• most have a rounded skull

malocclusion ( J:144356 )

• seen in most mice

abnormal snout morphology ( J:144356 )

• most mice have a shortened and often twisted snout

short snout ( J:144356 )

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:143356 )

• increased ABR threshold at all test frequencies except 33 kHz

impaired hearing ( J:143356 )

• hearing loss is less severe at 32 kHz than at lower frequencies

• hearing loss is more severe in homozygotes compared to heterozygotes

• Background Sensitivity: hearing loss is more severe in mice on a C57BL/6 congenic background compared to mice on a congenic CBA/Ca background

skeleton

abnormal cranium morphology ( J:144356 )

• most have a rounded skull

malocclusion ( J:144356 )

• seen in most mice

growth/size/body

malocclusion ( J:144356 )

• seen in most mice

abnormal snout morphology ( J:144356 )

• most mice have a shortened and often twisted snout

short snout ( J:144356 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Muenke Syndrome		DOID:0060703	OMIM:602849	J:144356