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Phenotypes Associated with This Genotype
Genotype
MGI:3831377
Allelic
Composition
Fgfr3tm1.1Aomw/Fgfr3tm1.1Aomw
Genetic
Background
129S6.129P2-Fgfr3tm1.1Aomw
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3tm1.1Aomw mutation (4 available); any Fgfr3 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• abnormalities are seen in 64% of mice (J:143356)
• 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)
• 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 (J:144356)
• bones of the skull appear thinner (J:144356)
• at E18.5 in some mice the size of the sagittal gap between the frontal and parietal bones is increased compared to controls (J:144356)
• at E18.5 in some mice the size of the sagittal gap between the frontal and parietal bones is increased compared to controls (J:144356)
• apparent increase in the overlap of frontal and parietal bones (J:144356)
• apparent increase in the overlap of frontal and parietal bones (J:144356)
• appears to be thinner (J:144356)
• appears to be thinner (J:144356)
• smaller and less ossified in some mice at E18.5 (J:144356)
• smaller and less ossified in some mice at E18.5 (J:144356)
• the occipital bones are smaller and less ossified in some mice at E18.5 (J:144356)
• the occipital bones are smaller and less ossified in some mice at E18.5 (J:144356)
• appears to be thinner (J:144356)
• appears to be thinner (J:144356)
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla (J:144356)
• retruded in mice with malocclusion (J:144356)
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla (J:144356)
• retruded in mice with malocclusion (J:144356)
• the premaxillary suture is straighter and lacks interdigitation (J:144356)
• the premaxillary suture is straighter and lacks interdigitation (J:144356)
• reduced ossification of the palatal shelves is seen in some mice at E18.5 (J:144356)
• reduced ossification of the palatal shelves is seen in some mice at E18.5 (J:144356)
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla (J:144356)
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla (J:144356)
• most have a rounded skull (J:144356)
• most have a rounded skull (J:144356)
• class III (lower teeth anterior in relation to upper teeth) malocclusion seen in most mice (J:144356)
• malocclusion impairs feeding (J:144356)
• class III (lower teeth anterior in relation to upper teeth) malocclusion seen in most mice (J:144356)
• malocclusion impairs feeding (J:144356)
• most mice have a shortened and often twisted snout (J:144356)
• most mice have a shortened and often twisted snout (J:144356)

hearing/vestibular/ear
• at least 2 prospective Deiters' cells adopt a pillar cell fate (J:143356)
• at least 2 prospective Deiters' cells adopt a pillar cell fate (J:143356)
• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls (J:143356)
• 4 or more outer hair cells are frequently seen in apical cross sections (J:143356)
• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls (J:143356)
• 4 or more outer hair cells are frequently seen in apical cross sections (J:143356)
• three outer hair cells are present but only a single Deiters' cell is seen in basal and mid-basal cochlear sections (J:143356)
• one or two Deiters' cells may be seen in apical cross sections (J:143356)
• three outer hair cells are present but only a single Deiters' cell is seen in basal and mid-basal cochlear sections (J:143356)
• one or two Deiters' cells may be seen in apical cross sections (J:143356)
• four pillar cells are seen in basal and mid-basal cochlear sections (J:143356)
• apical cross sections may show up to 5 pillar cells (J:143356)
• four pillar cells are seen in basal and mid-basal cochlear sections (J:143356)
• apical cross sections may show up to 5 pillar cells (J:143356)
• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls (J:143356)
• extra outer hair cells form a fairly continuous fourth row in the apical 25% of the cochlear duct (J:143356)
• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls (J:143356)
• extra outer hair cells form a fairly continuous fourth row in the apical 25% of the cochlear duct (J:143356)
• increased ABR threshold at all test frequencies (J:143356)
• increased ABR threshold at all test frequencies (J:143356)
• hearing loss is less severe at 32 kHz than at lower frequencies (J:143356)
• hearing loss is more severe in homozygotes compared to heterozygotes (J:143356)
• Background Sensitivity: hearing loss is more severe in mice on a 129S6/SvEvTac congenic background compared to mice on a congenic CBA/Ca background (J:143356)
• hearing loss is less severe at 32 kHz than at lower frequencies (J:143356)
• hearing loss is more severe in homozygotes compared to heterozygotes (J:143356)
• Background Sensitivity: hearing loss is more severe in mice on a 129S6/SvEvTac congenic background compared to mice on a congenic CBA/Ca background (J:143356)

skeleton
• bones of the skull appear thinner (J:144356)
• bones of the skull appear thinner (J:144356)
• at E18.5 in some mice the size of the sagittal gap between the frontal and parietal bones is increased compared to controls (J:144356)
• at E18.5 in some mice the size of the sagittal gap between the frontal and parietal bones is increased compared to controls (J:144356)
• apparent increase in the overlap of frontal and parietal bones (J:144356)
• apparent increase in the overlap of frontal and parietal bones (J:144356)
• appears to be thinner (J:144356)
• appears to be thinner (J:144356)
• smaller and less ossified in some mice at E18.5 (J:144356)
• smaller and less ossified in some mice at E18.5 (J:144356)
• the occipital bones are smaller and less ossified in some mice at E18.5 (J:144356)
• the occipital bones are smaller and less ossified in some mice at E18.5 (J:144356)
• appears to be thinner (J:144356)
• appears to be thinner (J:144356)
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla (J:144356)
• retruded in mice with malocclusion (J:144356)
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla (J:144356)
• retruded in mice with malocclusion (J:144356)
• the premaxillary suture is straighter and lacks interdigitation (J:144356)
• the premaxillary suture is straighter and lacks interdigitation (J:144356)
• reduced ossification of the palatal shelves is seen in some mice at E18.5 (J:144356)
• reduced ossification of the palatal shelves is seen in some mice at E18.5 (J:144356)
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla (J:144356)
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla (J:144356)
• most have a rounded skull (J:144356)
• most have a rounded skull (J:144356)
• class III (lower teeth anterior in relation to upper teeth) malocclusion seen in most mice (J:144356)
• malocclusion impairs feeding (J:144356)
• class III (lower teeth anterior in relation to upper teeth) malocclusion seen in most mice (J:144356)
• malocclusion impairs feeding (J:144356)
• in the trabecular bone of the femur head (J:144356)
• in the trabecular bone of the femur head (J:144356)
• in the proximal femur (J:144356)
• in the proximal femur (J:144356)
• a delay in ossification of the occipital and interparietal bones and of the palatal shelves is seen at E18.5 (J:144356)
• by P1 differences in maturation are less apparent (J:144356)
• a delay in ossification of the occipital and interparietal bones and of the palatal shelves is seen at E18.5 (J:144356)
• by P1 differences in maturation are less apparent (J:144356)

vision/eye
• increased distance between the orbits (J:144356)
• increased distance between the orbits (J:144356)

growth/size/body
• reduced ossification of the palatal shelves is seen in some mice at E18.5 (J:144356)
• reduced ossification of the palatal shelves is seen in some mice at E18.5 (J:144356)
• most mice have a shortened and often twisted snout (J:144356)
• most mice have a shortened and often twisted snout (J:144356)
• mice with skull abnormalities tend to be smaller than their littermates (J:144356)
• mice with skull abnormalities tend to be smaller than their littermates (J:144356)

digestive/alimentary system
• reduced ossification of the palatal shelves is seen in some mice at E18.5 (J:144356)
• reduced ossification of the palatal shelves is seen in some mice at E18.5 (J:144356)

nervous system
• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls (J:143356)
• 4 or more outer hair cells are frequently seen in apical cross sections (J:143356)
• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls (J:143356)
• 4 or more outer hair cells are frequently seen in apical cross sections (J:143356)

cellular
• at least 2 prospective Deiters' cells adopt a pillar cell fate (J:143356)
• at least 2 prospective Deiters' cells adopt a pillar cell fate (J:143356)

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


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory