Phenotypes associated with this allele

• Allele Symbol: Hfm
• Allele Name: hemifacial microsomia-associated locus
• Allele ID: MGI:1861103
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hfm/Hfm	involves: SWV-Mbp^shi	MGI:2181996
ht2	Hfm/Hfm^+	involves: SWV-Mbp^shi	MGI:2181997

Genotype
MGI:2181996

hm1

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

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

mortality/aging

prenatal lethality, complete penetrance ( J:21097 )

• authors suggest that the lethality is during the prenatal period

Genotype
MGI:2181997

ht2

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

craniofacial

malocclusion ( J:77871 , J:21097 )

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

• abnormal bite (J:21097)

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:77871 , J:21097 )

• low set ear (J:21097)

small ears ( J:77871 , J:21097 )

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

hearing/vestibular/ear

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

• low set ear (J:21097)

small ears ( J:77871 , J:21097 )

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

skeleton

malocclusion ( J:77871 , J:21097 )

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

• abnormal bite (J:21097)

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:77871 , J:21097 )

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

• abnormal bite (J:21097)

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

• low set ear (J:21097)

small ears ( J:77871 , J:21097 )

• 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