Phenotypes Associated with This Genotype

Genotype
MGI:3831373

• Allelic Composition: Fgfr3^tm1.1Aomw/Fgfr3⁺
• 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 11% of mice (J:143356)

• only males develop craniofacial abnormalities (J:144356)

• Background Sensitivity: more males on a C57BL/6 congenic background display skull abnormalities compared to males on a congenic 129S6/SvEvTac background (J:144356)

abnormal cranium morphology ( J:144356 )

• a few mice have rounded skulls

• increased skull height is seen in some males that also appear to have an ill-defined calvarial suture

• bones of the skull appear thinner

abnormal cranial suture morphology ( J:144356 )

• some males appear to have an ill-defined calvarial suture suggesting synostosis

abnormal coronal suture morphology ( J:144356 )

• indistinct in some males

abnormal lambdoid suture morphology ( J:144356 )

• indistinct in some males

decreased cranium height ( J:144356 )

• decreased skull length is seen in males that also appear to have an ill-defined calvarial suture

abnormal neurocranium morphology ( J:144356 )

• apparent increase in the overlap of frontal and parietal bones

thin frontal bone ( J:144356 )

• frontal bone appears to be thinner

enlarged interparietal bone ( J:144356 )

• in some males

abnormal occipital bone morphology ( J:144356 )

• displaced caudally and ventrally in some males

abnormal foramen magnum morphology ( J:144356 )

• the foramen magnum is pushed round to the base of the skull in some males

thin parietal bone ( J:144356 )

• parietal bone appears to be thinner

malocclusion ( J:144356 )

• seen in a few mice

abnormal premaxilla morphology ( J:144356 )

• bilateral fusion of the premaxillary suture was seen in one severely affected male

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 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 )

• a few mice have rounded skulls

• increased skull height is seen in some males that also appear to have an ill-defined calvarial suture

• bones of the skull appear thinner

abnormal cranial suture morphology ( J:144356 )

• some males appear to have an ill-defined calvarial suture suggesting synostosis

abnormal coronal suture morphology ( J:144356 )

• indistinct in some males

abnormal lambdoid suture morphology ( J:144356 )

• indistinct in some males

decreased cranium height ( J:144356 )

• decreased skull length is seen in males that also appear to have an ill-defined calvarial suture

abnormal neurocranium morphology ( J:144356 )

• apparent increase in the overlap of frontal and parietal bones

thin frontal bone ( J:144356 )

• frontal bone appears to be thinner

enlarged interparietal bone ( J:144356 )

• in some males

abnormal occipital bone morphology ( J:144356 )

• displaced caudally and ventrally in some males

abnormal foramen magnum morphology ( J:144356 )

• the foramen magnum is pushed round to the base of the skull in some males

thin parietal bone ( J:144356 )

• parietal bone appears to be thinner

malocclusion ( J:144356 )

• seen in a few mice

abnormal premaxilla morphology ( J:144356 )

• bilateral fusion of the premaxillary suture was seen in one severely affected male

synostosis ( J:144356 )

• some males appear to have an ill-defined calvarial suture suggesting synostosis

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