Gene Summary

Name:
melanocortin 5 receptor
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vitreous body morphology Mc5rem1(IMPC)Mbp HOM   Early adult 4.68×10-07
cataract Mc5rem1(IMPC)Mbp HOM   Early adult 4.60×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mc5r mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mc5r by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 45
Developmental cataract OMIM:616851
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 38
Developmental cataract OMIM:614691
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Aniridia 3
Cataract OMIM:617142
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Trichomegaly
Cataract OMIM:190330
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Retinitis Pigmentosa 84
Cataract, Macular coloboma, Macular atrophy OMIM:618220
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Galactosemia Iv
Cataract OMIM:618881
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation OMIM:614292
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Iris coloboma OMIM:610202
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
X-Linked Retinoschisis
Cataract ORPHA:792
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Cataract 47
Microcornea, Cataract OMIM:612018
Coats Disease
Cataract, Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris ORPHA:190
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Galactosemia Ii
Cataract OMIM:230200
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Aniridia 2
Cataract, Aniridia OMIM:617141
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment OMIM:193230
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Stickler Syndrome Type 2
Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Exudative Vitreoretinopathy 6
Cataract, Retinal detachment OMIM:616468
Proximal Myotonic Myopathy
Cataract ORPHA:606
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Wagner Vitreoretinopathy
Optic atrophy, Cataract, Peripheral tractional retinal detachment, Retinal pigment epithelial atr... OMIM:143200
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration OMIM:611131
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Retinal detachment, Iris coloboma, Macular atrophy OMIM:212550
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Retinitis Pigmentosa 4
Pigmentary retinopathy, Cataract OMIM:613731
Nathalie Syndrome
Cataract OMIM:255990
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Morm Syndrome
Retinal atrophy, Cataract ORPHA:75858
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Cataract 11, Multiple Types
Cataract OMIM:610623
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal detachment, Iris coloboma ORPHA:1473
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cataract, Optic disc pallor, Macular atrophy OMIM:614500
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Optic disc pallor, Pigmentary retinopathy OMIM:204100
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Peters anomaly, Optic nerve aplasia, Op... OMIM:120200
Pellagra-Like Syndrome
Cataract OMIM:260650
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc pallor OMIM:251270
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Congenital Varicella Syndrome
Cataract ORPHA:291
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract OMIM:616562
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Cataract 24
Anterior polar cataract OMIM:601202
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Retinal coloboma OMIM:601794
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma ORPHA:363741
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Optic nerve hypoplasia, Aniridia... OMIM:106210
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Cata... OMIM:609049
Oculoauricular Syndrome
Developmental cataract, Retinal coloboma, Sclerocornea, Microcornea, Cataract, Posterior embryoto... OMIM:612109
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Peters anomaly, Remnants... OMIM:614643
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Cataract OMIM:268100
Cahmr Syndrome
Lamellar cataract OMIM:211770
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Anterior cortical cataract, Optic atrophy, Cataract, Cerulean cata... ORPHA:67036
Norrie Disease
Hypoplasia of the iris, Sclerocornea, Optic atrophy, Cataract, Corneal opacity, Retinal detachmen... ORPHA:649
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Cortical cataract, Posterior subcapsular cataract ORPHA:637
Neuroocular Syndrome
Microcornea, Cataract, Iris coloboma, Blue irides, Remnants of the hyaloid vascular system, Peter... OMIM:619539
Microphthalmia, Syndromic 2
Developmental cataract, Microcornea, Retinal detachment, Remnants of the hyaloid vascular system,... OMIM:300166

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mc5r

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mc5r.

No publications found that use IMPC mice or data for Mc5r.

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MGI Allele Allele Type Produced
Mc5rtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mc5rem1(IMPC)Mbp Whole-gene deletion Mice, Tissue
Mc5rtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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