Phenotypes Associated with This Genotype

Genotype
MGI:2181997

• Allelic Composition: Hfm/Hfm⁺
• Genetic Background: involves: SWV-Mbp^shi

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

craniofacial

malocclusion ( J:21097 , J:77871 )

• abnormal bite (J:21097)

• upper incisors deviated to one side due to deformation of maxilla, premaxilla and nasal bone (J:77871)

abnormal pharyngeal arch morphology ( J:77871 )

• at E9-10 hemorrhage and hypoplasia noted

pharyngeal arch hypoplasia ( J:77871 )

• at E9 - E10

lowered ear position ( J:21097 , J:77871 )

• low set ear (J:21097)

small ears ( J:21097 , J:77871 )

• in one case, outer ear was absent (J:21097)

hearing/vestibular/ear

lowered ear position ( J:21097 , J:77871 )

• low set ear (J:21097)

small ears ( J:21097 , J:77871 )

• in one case, outer ear was absent (J:21097)

skeleton

malocclusion ( J:21097 , J:77871 )

• abnormal bite (J:21097)

• upper incisors deviated to one side due to deformation of maxilla, premaxilla and nasal bone (J:77871)

embryo

abnormal pharyngeal arch morphology ( J:77871 )

• at E9-10 hemorrhage and hypoplasia noted

pharyngeal arch hypoplasia ( J:77871 )

• at E9 - E10

growth/size/body

malocclusion ( J:21097 , J:77871 )

• abnormal bite (J:21097)

• upper incisors deviated to one side due to deformation of maxilla, premaxilla and nasal bone (J:77871)

lowered ear position ( J:21097 , J:77871 )

• low set ear (J:21097)

small ears ( J:21097 , J:77871 )

• in one case, outer ear was absent (J:21097)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Goldenhar syndrome		DOID:2907	OMIM:164210	J:21097