Mouse Genome Informatics
hm
    Fgfr3tm1.1Aomw/Fgfr3tm1.1Aomw
129S6.129P2-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 64% of mice (J:143356)
• Background Sensitivity: craniofacial abnormalities are more severe on a congenic 129S6/SvEvTac background compared to mice on BALB/c or CBA/Ca congenic backgrounds (J:144356)
• there is a significant sex bias in the penetrance of craniofacial abnormalities with males more severely affected compared to females (J:144356)
• bones of the skull appear thinner
• at E18.5 in some mice the size of the sagittal gap between the frontal and parietal bones is increased compared to controls
• apparent increase in the overlap of frontal and parietal bones
• appears to be thinner
• smaller and less ossified in some mice at E18.5
• the occipital bones are smaller and less ossified in some mice at E18.5
• appears to be thinner
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla
• retruded in mice with malocclusion
• the premaxillary suture is straighter and lacks interdigitation
• reduced ossification of the palatal shelves is seen in some mice at E18.5
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla
• most have a rounded skull
• class III (lower teeth anterior in relation to upper teeth) malocclusion seen in most mice
• malocclusion impairs feeding
• most mice have a shortened and often twisted snout

hearing/vestibular/ear
• at least 2 prospective Deiters' cells adopt a pillar cell fate
• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls
• 4 or more outer hair cells are frequently seen in apical cross sections
• three outer hair cells are present but only a single Deiters' cell is seen in basal and mid-basal cochlear sections
• one or two Deiters' cells may be seen in apical cross sections
• four pillar cells are seen in basal and mid-basal cochlear sections
• apical cross sections may show up to 5 pillar cells
• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls
• extra outer hair cells form a fairly continuous fourth row in the apical 25% of the cochlear duct
• increased ABR threshold at all test frequencies
• 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 129S6/SvEvTac congenic background compared to mice on a congenic CBA/Ca background

skeleton
• bones of the skull appear thinner
• at E18.5 in some mice the size of the sagittal gap between the frontal and parietal bones is increased compared to controls
• apparent increase in the overlap of frontal and parietal bones
• appears to be thinner
• smaller and less ossified in some mice at E18.5
• the occipital bones are smaller and less ossified in some mice at E18.5
• appears to be thinner
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla
• retruded in mice with malocclusion
• the premaxillary suture is straighter and lacks interdigitation
• reduced ossification of the palatal shelves is seen in some mice at E18.5
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla
• most have a rounded skull
• class III (lower teeth anterior in relation to upper teeth) malocclusion seen in most mice
• malocclusion impairs feeding
• in the trabecular bone of the femur head
• in the proximal femur
• a delay in ossification of the occipital and interparietal bones and of the palatal shelves is seen at E18.5
• by P1 differences in maturation are less apparent

vision/eye
• increased distance between the orbits

growth/size
• reduced ossification of the palatal shelves is seen in some mice at E18.5
• most mice have a shortened and often twisted snout
• mice with skull abnormalities tend to be smaller than their littermates

digestive/alimentary system
• reduced ossification of the palatal shelves is seen in some mice at E18.5

nervous system
• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls
• 4 or more outer hair cells are frequently seen in apical cross sections

cellular
• at least 2 prospective Deiters' cells adopt a pillar cell fate

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