Phenotypes associated with this allele

• Allele Symbol: Ednra^m1Mhda
• Allele Name: mutation 1, Martin Hrabe de Angelis
• Allele ID: MGI:5618847
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ednra^m1Mhda/Ednra^m1Mhda	C3HeB/FeJ-Ednra^m1Mhda	MGI:5817772
ht2	Ednra^m1Mhda/Ednra^+	C3HeB/FeJ-Ednra^m1Mhda	MGI:5817760

Genotype
MGI:5817772

hm1

• Allelic Composition: Ednra^m1Mhda/Ednra^m1Mhda
• 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 )

• some mice show shortening and flattening of the skull

• bones of the skull are misshaped or underdeveloped

wide coronal suture ( J:237903 )

• broadening of the coronal suture

wide lambdoid suture ( J:237903 )

• broadening of the anterior lambdoid sutures

wide sagittal suture ( J:237903 )

• broadening of the sagittal suture

abnormal temporal bone petrous part morphology ( J:237903 )

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

absent temporal bone zygomatic process ( J:237903 )

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

abnormal zygomatic arch morphology ( J:237903 )

• dysplastic zygomatic arch with missing zygomatic process

abnormal orbit morphology ( J:237903 )

• orbit is round and with thickened malar zygomatic bone

round orbits ( J:237903 )

abnormal jaw morphology ( J:237903 )

• jaw dysplasia

malocclusion ( J:237903 )

• one mouse showed malocclusion of molar teeth

abnormal mandibular condyloid process morphology ( J:237903 )

• jaw dysplasia of the mandibular condyloid process

abnormal temporomandibular joint morphology ( J:237903 )

• abnormality of the temporomandibular joint

short mandible ( J:237903 )

• shortening of the mandible by 14.6%

micrognathia ( J:237903 )

• two mice show micrognathia by mandibular shortening (14.6%) of the diastema

abnormal zygomatic bone morphology ( J:237903 )

• broadened zygomatic bones without any sutures

• shape of the zygomatic bone is abnormal

• thickened malar zygomatic bone

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

round face ( J:237903 )

• round facial appearance

prominent cheeks ( J:237903 )

short snout ( J:237903 )

shortened head ( J:237903 )

lowered ear position ( J:237903 )

• low-settled ears

abnormal ear shape ( J:237903 )

• malformed big bat-like ears

• the low-settled ears have a tapered helix

abnormal outer ear helix morphology ( J:237903 )

• the low-settled ears have a tapered helix

growth/size/body

malocclusion ( J:237903 )

• one mouse showed malocclusion of molar teeth

round face ( J:237903 )

• round facial appearance

prominent cheeks ( J:237903 )

short snout ( J:237903 )

shortened head ( J:237903 )

lowered ear position ( J:237903 )

• low-settled ears

abnormal ear shape ( J:237903 )

• malformed big bat-like ears

• the low-settled ears have a tapered helix

abnormal outer ear helix morphology ( J:237903 )

• the low-settled ears have a tapered helix

decreased body size ( J:237903 )

decreased body weight ( J:237903 )

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

lowered ear position ( J:237903 )

• low-settled ears

abnormal ear shape ( J:237903 )

• malformed big bat-like ears

• the low-settled ears have a tapered helix

abnormal outer ear helix morphology ( J:237903 )

• the low-settled ears have a tapered helix

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

• auditory brainstem response thresholds are increased by 25 and 50 dB for both click and pure tone stimuli, respectively

conductive hearing loss ( J:237903 )

nervous system

decreased prepulse inhibition ( J:237903 )

• decrease in prepulse inhibition at all prepulse intensities

respiratory system

abnormal respiration ( J:237903 )

• mice exhibit decreased expiratory reserve volume, forced vital capacity, and forced expiratory volume

abnormal inspiratory capacity ( J:237903 )

• decrease in inspiratory capacity

decreased total lung capacity ( J:237903 )

abnormal vital capacity ( J:237903 )

• decrease in vital capacity

decreased lung compliance ( J:237903 )

• decrease in static lung compliance

skeleton

abnormal cranium morphology ( J:237903 )

• some mice show shortening and flattening of the skull

• bones of the skull are misshaped or underdeveloped

wide coronal suture ( J:237903 )

• broadening of the coronal suture

wide lambdoid suture ( J:237903 )

• broadening of the anterior lambdoid sutures

wide sagittal suture ( J:237903 )

• broadening of the sagittal suture

abnormal temporal bone petrous part morphology ( J:237903 )

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

absent temporal bone zygomatic process ( J:237903 )

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

abnormal zygomatic arch morphology ( J:237903 )

• dysplastic zygomatic arch with missing zygomatic process

abnormal orbit morphology ( J:237903 )

• orbit is round and with thickened malar zygomatic bone

round orbits ( J:237903 )

abnormal jaw morphology ( J:237903 )

• jaw dysplasia

malocclusion ( J:237903 )

• one mouse showed malocclusion of molar teeth

abnormal mandibular condyloid process morphology ( J:237903 )

• jaw dysplasia of the mandibular condyloid process

abnormal temporomandibular joint morphology ( J:237903 )

• abnormality of the temporomandibular joint

short mandible ( J:237903 )

• shortening of the mandible by 14.6%

micrognathia ( J:237903 )

• two mice show micrognathia by mandibular shortening (14.6%) of the diastema

abnormal zygomatic bone morphology ( J:237903 )

• broadened zygomatic bones without any sutures

• shape of the zygomatic bone is abnormal

• thickened malar zygomatic bone

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

vision/eye

abnormal orbit morphology ( J:237903 )

• orbit is round and with thickened malar zygomatic bone

round orbits ( J:237903 )

macrophthalmia ( J:237903 )

• eyes of some mice are enlarged

integument

integument phenotype ( J:237903 )

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

Genotype
MGI:5817760

ht2

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

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