Phenotypes Associated with This Genotype

Genotype
MGI:3831376

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

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

craniofacial

craniofacial phenotype ( J:143356 , J:144356 )

N • no heterozygotes with craniofacial abnormalities were found (J:143356)

N • Background Sensitivity: craniofacial abnormalities are less severe on a congenic CBA/Ca background compared to mice on 129S6/SvEvTac background but more severe compared to mice on a BALB/c, congenic background (J:144356)

N • only males develop craniofacial abnormalities (J:144356)

abnormal cranium morphology ( J:144356 )

• a few mice have rounded skulls

malocclusion ( J:144356 )

• seen in a few mice

abnormal snout morphology ( J:144356 )

• a few 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 more severe in homozygotes compared to heterozygotes

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

• Background Sensitivity: hearing loss is less severe in mice on a CBA/Ca congenic background compared to mice on a congenic 129S6/SvEvTac or C57BL/6 background

skeleton

abnormal cranium morphology ( J:144356 )

• a few mice have rounded skulls

malocclusion ( J:144356 )

• seen in a few mice

growth/size/body

malocclusion ( J:144356 )

• seen in a few mice

abnormal snout morphology ( J:144356 )

• a few 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