Phenotypes Associated with This Genotype

Genotype
MGI:5817760

• Allelic Composition: Ednra^m1Mhda/Ednra⁺
• Genetic Background: C3HeB/FeJ-Ednra^m1Mhda

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

decreased startle reflex ( J:237903 )

• acoustic startle reactivity is decreased

craniofacial

abnormal cranium morphology ( J:237903 )

• bones of the skull are misshaped or underdeveloped

abnormal temporal bone petrous part morphology ( J:237903 )

• the petrosal bone shows abnormal closure of the ringbone and abnormally shaped incudo-malleal joints

abnormal temporal bone zygomatic process morphology ( J:237903 )

• in some mice, the zygomatic process of the squamosal bone is present but with a gap to the zygomatic bone

absent temporal bone zygomatic process ( J:237903 )

• absence of the zygomatic process of the squamosal bone in some mice; in this instance, the zygomatic bone appears fused without any suture

malocclusion ( J:237903 )

• one mouse showed a minor malocclusion

short mandible ( J:237903 )

• shortening of the mandible by 8.1%

micrognathia ( J:237903 )

• three mice show micrognathia by mandibular shortening (8.1%) of the diastema

abnormal zygomatic bone morphology ( J:237903 )

• shape of the zygomatic bone is abnormal in mice in which the zygomatic process of the squamosal bone is absent

absent incus short process ( J:237903 )

• the short process of the incus is missing

abnormal malleus morphology ( J:237903 )

• malleal bodies are slimmer with planar-shaped facets

hearing/vestibular/ear

absent incus short process ( J:237903 )

• the short process of the incus is missing

abnormal malleus morphology ( J:237903 )

• malleal bodies are slimmer with planar-shaped facets

increased or absent threshold for auditory brainstem response ( J:237903 )

• auditory brainstem response thresholds are increased

impaired hearing ( J:237903 )

• mild hearing impairment

nervous system

decreased prepulse inhibition ( J:237903 )

• decrease in prepulse inhibition at all prepulse intensities

respiratory system

abnormal respiration ( J:237903 )

• mice exhibit decreased volumetric parameters in lung function analysis for expiratory reserve volume

abnormal inspiratory capacity ( J:237903 )

• decrease in inspiratory capacity

abnormal vital capacity ( J:237903 )

• decrease in vital capacity

skeleton

abnormal cranium morphology ( J:237903 )

• bones of the skull are misshaped or underdeveloped

abnormal temporal bone petrous part morphology ( J:237903 )

• the petrosal bone shows abnormal closure of the ringbone and abnormally shaped incudo-malleal joints

abnormal temporal bone zygomatic process morphology ( J:237903 )

• in some mice, the zygomatic process of the squamosal bone is present but with a gap to the zygomatic bone

absent temporal bone zygomatic process ( J:237903 )

• absence of the zygomatic process of the squamosal bone in some mice; in this instance, the zygomatic bone appears fused without any suture

malocclusion ( J:237903 )

• one mouse showed a minor malocclusion

short mandible ( J:237903 )

• shortening of the mandible by 8.1%

micrognathia ( J:237903 )

• three mice show micrognathia by mandibular shortening (8.1%) of the diastema

abnormal zygomatic bone morphology ( J:237903 )

• shape of the zygomatic bone is abnormal in mice in which the zygomatic process of the squamosal bone is absent

absent incus short process ( J:237903 )

• the short process of the incus is missing

abnormal malleus morphology ( J:237903 )

• malleal bodies are slimmer with planar-shaped facets

abnormal incudomalleolar joint morphology ( J:237903 )

• abnormally shaped incudo-malleal joints

integument

integument phenotype ( J:237903 )

N • mice do not exhibit alopecia

growth/size/body

malocclusion ( J:237903 )

• one mouse showed a minor malocclusion

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