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Phenotypes Associated with This Genotype
Genotype
MGI:5817772
Allelic
Composition
Ednram1Mhda/Ednram1Mhda
Genetic
Background
C3HeB/FeJ-Ednram1Mhda
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednram1Mhda mutation (1 available); any Ednra mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• acoustic startle reactivity is decreased

craniofacial
• some mice show shortening and flattening of the skull
• bones of the skull are misshaped or underdeveloped
• broadening of the coronal suture
• broadening of the anterior lambdoid sutures
• broadening of the sagittal suture
• the petrosal bone shows abnormal closure of the ringbone and abnormally shaped incudo-malleal joints
• absence of the zygomatic process of the squamosal bone; in these mice, the zygomatic bone appears fused without any suture
• dysplastic zygomatic arch with missing zygomatic process
• orbit is round and with thickened malar zygomatic bone
• jaw dysplasia
• jaw dysplasia of the mandibular condyloid process
• abnormality of the temporomandibular joint
• shortening of the mandible by 14.6%
• two mice show micrognathia by mandibular shortening (14.6%) of the diastema
• broadened zygomatic bones without any sutures
• shape of the zygomatic bone is abnormal
• thickened malar zygomatic bone
• one mouse showed malocclusion of molar teeth
• the short process of the incus is missing
• malleal bodies are slimmer with planar-shaped facets
• round facial appearance
• low-settled ears
• malformed big bat-like ears
• the low-settled ears have a tapered helix
• the low-settled ears have a tapered helix

growth/size/body
• round facial appearance
• low-settled ears
• malformed big bat-like ears
• the low-settled ears have a tapered helix
• the low-settled ears have a tapered helix

hearing/vestibular/ear
• the short process of the incus is missing
• malleal bodies are slimmer with planar-shaped facets
• low-settled ears
• malformed big bat-like ears
• the low-settled ears have a tapered helix
• the low-settled ears have a tapered helix
• auditory brainstem response thresholds are increased by 25 and 50 dB for both click and pure tone stimuli, respectively

nervous system
• decrease in prepulse inhibition at all prepulse intensities

respiratory system
• mice exhibit decreased expiratory reserve volume, forced vital capacity, and forced expiratory volume
• decrease in inspiratory capacity
• decrease in vital capacity
• decrease in static lung compliance

skeleton
• some mice show shortening and flattening of the skull
• bones of the skull are misshaped or underdeveloped
• broadening of the coronal suture
• broadening of the anterior lambdoid sutures
• broadening of the sagittal suture
• the petrosal bone shows abnormal closure of the ringbone and abnormally shaped incudo-malleal joints
• absence of the zygomatic process of the squamosal bone; in these mice, the zygomatic bone appears fused without any suture
• dysplastic zygomatic arch with missing zygomatic process
• orbit is round and with thickened malar zygomatic bone
• jaw dysplasia
• jaw dysplasia of the mandibular condyloid process
• abnormality of the temporomandibular joint
• shortening of the mandible by 14.6%
• two mice show micrognathia by mandibular shortening (14.6%) of the diastema
• broadened zygomatic bones without any sutures
• shape of the zygomatic bone is abnormal
• thickened malar zygomatic bone
• one mouse showed malocclusion of molar teeth
• the short process of the incus is missing
• malleal bodies are slimmer with planar-shaped facets

vision/eye
• orbit is round and with thickened malar zygomatic bone
• eyes of some mice are enlarged

integument
N
• mice do not exhibit alopecia

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
mandibulofacial dysostosis with alopecia DOID:0060365 OMIM:616367
J:237903


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory