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Phenotypes Associated with This Genotype
Genotype
MGI:3831373
Allelic
Composition
Fgfr3tm1.1Aomw/Fgfr3+
Genetic
Background
B6.129P2-Fgfr3tm1.1Aomw
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3tm1.1Aomw mutation (4 available); any Fgfr3 mutation (52 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• 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)
• 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
• some males appear to have an ill-defined calvarial suture suggesting synostosis
• indistinct in some males
• indistinct in some males
• decreased skull length is seen in males that also appear to have an ill-defined calvarial suture
• apparent increase in the overlap of frontal and parietal bones
• frontal bone appears to be thinner
• in some males
• displaced caudally and ventrally in some males
• the foramen magnum is pushed round to the base of the skull in some males
• parietal bone appears to be thinner
• seen in a few mice
• bilateral fusion of the premaxillary suture was seen in one severely affected male
• a few mice have a shortened and often twisted snout

hearing/vestibular/ear
• increased ABR threshold at all test frequencies except 33 kHz
• 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
• 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
• some males appear to have an ill-defined calvarial suture suggesting synostosis
• indistinct in some males
• indistinct in some males
• decreased skull length is seen in males that also appear to have an ill-defined calvarial suture
• apparent increase in the overlap of frontal and parietal bones
• frontal bone appears to be thinner
• in some males
• displaced caudally and ventrally in some males
• the foramen magnum is pushed round to the base of the skull in some males
• parietal bone appears to be thinner
• seen in a few mice
• bilateral fusion of the premaxillary suture was seen in one severely affected male
• some males appear to have an ill-defined calvarial suture suggesting synostosis

growth/size/body
• seen in a few mice
• a few mice have a shortened and often twisted snout

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory