Phenotype description | Phenotype/disease entry | Species | Genomic changes | Inheritance | References |
---|---|---|---|---|---|
Enlarged ear pinnae with a distinctive ventrolateral shift, microphthalmic anomalies | Dumbo (dmbo) | Mouse | Nonsense mutation in Hmx1 exon1 | Recessive | Munroe et al. [1] |
Laterally-protruding ears and microphthalmic anomalies | Misplaced ears (mpe) | Mouse | 8Â bp deletion in Hmx1 exon2 | Recessive | Munroe et al. [1] |
Congenital malformations of the pinna and modest reduction in ocular size | Dumbo (dmbo) | Rat | 5777Â bp deletion encompassing Hmx1-ECR | Recessive | Quina et al. [2] |
Moderately to severely truncated ear | Crop ear | Highland cattle | 76Â bp Hmx1-ECR duplication | Dominant | Koch et al. [29] |
Shorter and thicker ear | Short ear | Altay sheep | 76Â bp Hmx1-ECR duplication | Dominant | He et al. [30] |
Ophthalmic anomalies and external ear abnormalities | Oculoauricular syndrome (OAS) | Human | 26Â bp deletion in HMX1 coding region | Recessive | Schorder et al. [10] |
Bilateral external ear malformation/cup ear | Concha type microtia | Human | Duplications involving HMX1-ECR | Dominant | This study |