Mouse Genome Informatics
ht
    Fgfr3tm1.1Aomw/Fgfr3+
B6.129P2-Fgfr3tm1.1Aomw
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• 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
• appears to be thinner
• bilateral fusion of the premaxillary suture was seen in one severely affected male
• seen in a few mice
• 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
• 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
• appears to be thinner
• bilateral fusion of the premaxillary suture was seen in one severely affected male
• seen in a few mice
• some males appear to have an ill-defined calvarial suture suggesting synostosis

Mouse Models of Human Disease
OMIM IDRef(s)
Muenke Syndrome; MNKES 602849 J:144356