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Symbol
Name
ID
Chm
CHM Rab escort protein
MGI:892979
Phenotype annotations related to vision/eye
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Attenuation of retinal blood vessels
Posterior subcapsular cataract
Chorioretinal atrophy
Chorioretinal scalloped atrophy
Choroidal neovascularization
Fundus hypopigmentation
Granular macular appearance
Macular edema
Abnormal retinal pigmentation
Nummular pigmentation of the retina
Pigmentary retinopathy
Spicular pigmentation of the retina
Retinal pigment epithelial mottling
Abnormal fundus autofluorescence imaging
Abnormal electroretinogram
Myopia
Color vision defect
Nyctalopia
Visual impairment
Constriction of peripheral visual field
Peripheral visual field loss
Progressive visual loss
Disease(s) Associated with CHM
choroideremia

Mouse Phenotypes
vision/eye phenotype
abnormal retina vasculature morphology
increased retina apoptosis
abnormal Muller cell physiology
decreased retina ganglion cell number
decreased retina photoreceptor cell number
abnormal retina bipolar cell morphology
abnormal retina rod bipolar cell morphology
abnormal retina horizontal cell morphology
abnormal photoreceptor outer segment morphology
short photoreceptor outer segment
disorganized photoreceptor outer segment
abnormal retina cone cell morphology
retina cone cell degeneration
abnormal retina rod cell morphology
retina photoreceptor degeneration
abnormal retina pigment epithelium morphology
abnormal retina pigmentation
abnormal ocular fundus morphology
abnormal retina morphology
thin retina outer nuclear layer
decreased total retina thickness
retina degeneration
abnormal electroretinogram waveform feature
decreased a-wave amplitude
decreased b-wave amplitude
abnormal rod electrophysiology
abnormal vision
Availability Mouse Genotype
Chmtm1.2Seab/Chm+
Chmtm1.3Seab/Chm+
Chmtm1Jvdh/Chm+ *
Chmtm1.1Seab/Chmtm1.1Seab
Tg(Six3-cre)69Frty/0  (conditional)
Chmtm1.1Seab/Y
Tg(Six3-cre)69Frty/0  (conditional)
Chmtm1Ynshn/Y
Tg(Six3-cre)69Frty/0  (conditional)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
06/16/2026
MGI 6.24
The Jackson Laboratory