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Gene: Mc1r MGI:99456

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Gene Summary

Name:
melanocortin 1 receptor
Synonyms:
Mshra,  extension recessive yellow,  Mcr1,  e

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 skin morphology Mc1rtm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal coat/hair pigmentation Mc1rtm1.1(KOMP)Vlcg HOM Early adult 1.33×10-12

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Adult LacZ

LacZ Images Section

4 Images

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Histopathology

Images

1 Images

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Human diseases caused by Mc1r 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.

The table below shows human diseases associated to Mc1r by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Familial Melanoma
Abnormal hair morphology, Freckling ORPHA:618

The table below shows human diseases predicted to be associated to Mc1r by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Ringed Hair
Abnormal hair morphology OMIM:180600
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Book Syndrome
Premature graying of hair OMIM:112300
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... OMIM:619947
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Hearing impairment OMIM:300719
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Deafness, Congenital, With Total Albinism
Hearing impairment, Albinism OMIM:220900
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... OMIM:227010
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Irregular hyperpigmentation ORPHA:1336
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Linear Atrophoderma Of Moulin
Inflammatory abnormality of the skin, Linear hyperpigmentation, Pruritus ORPHA:140933
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Blue irides, General... OMIM:103500
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ... OMIM:131960
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, Numerous pigmented freckles, Patchy hypo- and hyperpigme... OMIM:601706
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... OMIM:613265
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow, Hearing impairment ORPHA:2222
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Hearing impairment OMIM:172850
Albinism-Deafness Syndrome
Partial albinism, Albinism, Congenital sensorineural hearing impairment, Patchy hypo- and hyperpi... OMIM:300700
Insulin-Resistance Syndrome Type A
Generalized hyperpigmentation, Generalized hirsutism ORPHA:2297
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Albinism-Deafness Syndrome
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... ORPHA:998
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Sensorineural hearing impa... OMIM:193510
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Bullous Dystrophy, Hereditary Macular Type
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail OMIM:302000
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature... ORPHA:895
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Sensorineural... ORPHA:2885
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment, Albinism OMIM:300650
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Amyloidosis, Primary Localized Cutaneous, 3
Generalized hyperpigmentation, Hypermelanotic macule OMIM:617920
Ectodermal Dysplasia, Trichoodontoonychial Type
Irregular hyperpigmentation of back, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair,... ORPHA:1818
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair OMIM:618808
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin ORPHA:46487
Uv-Sensitive Syndrome 1
Freckling, Pigmentation anomalies of sun-exposed skin OMIM:600630
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... ORPHA:89838
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... OMIM:277580
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Ridged fingernail, Hypopigmented skin patches, Protruding ear, Fingernail dysplasia, Sp... ORPHA:2251
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Sensorineu... ORPHA:3437
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... ORPHA:79399
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b... ORPHA:79402
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti ORPHA:1573
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis ORPHA:66633
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... OMIM:104100
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Obesity And Hypopigmentation
Red hair OMIM:620195
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Hyperpigmentation in sun-exposed areas, Onycholysis OMIM:176100
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of... ORPHA:218
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation, Nail dysplasia OMIM:225050
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Ermine Phenotype
Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p... ORPHA:999
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, Hypopigmented skin patches ORPHA:3239
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Spastic Paraplegia 23, Autosomal Recessive
Hyperpigmentation in sun-exposed areas, Multiple lentigines, Premature graying of body hair, Viti... OMIM:270750
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Hypoplastic toenails, Freckling ORPHA:1547
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hirsutism, Generalized hypo... ORPHA:1816
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Congenital se... ORPHA:894
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Deafness, Congenital, With Vitiligo And Achalasia
Hearing impairment, Vitiligo OMIM:221350
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... ORPHA:158681
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Profuse pigmented skin lesions, Erythroderma ORPHA:280785
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Multiple lentigines, Vitiligo ORPHA:101003
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Multiple ... ORPHA:3214
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Waardenburg Syndrome, Type 3
Partial albinism, Synophrys, Sensorineural hearing impairment, Blue irides, Hypopigmented skin pa... OMIM:148820
Hemifacial Atrophy, Progressive
Patchy alopecia, Microtia, Poliosis OMIM:141300
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... OMIM:613266
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp OMIM:618373
Familial Melanoma
Abnormal hair morphology, Freckling ORPHA:618
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Bazex-Dupre-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Hyperpigmentation ... OMIM:301845
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Sensorineural hearin... ORPHA:53271
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy OMIM:613988
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Cronkhite-Canada Syndrome
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Ab... ORPHA:2930
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:220402
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... OMIM:611584
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Atrichia, Nail dystrophy, Hy... ORPHA:1867
Lelis Syndrome
Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Nail dystrophy, Sparse hair, Ab... ORPHA:140936
Lichen Planus Pemphigoides
Hypopigmented streaks, Abnormality of the nail ORPHA:254478
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Macrotia, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Complex Regional Pain Syndrome
Abnormality of hair growth, Slow-growing nails, Allodynia ORPHA:83452
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:251270
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots ORPHA:100
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair OMIM:619172
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperpigmentation of the skin OMIM:613743
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation ORPHA:743
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Hearing impairment ORPHA:457260
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... ORPHA:69087
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Abnormality of the subungual region, Anonychia, Nail dystrophy ORPHA:79411
Al-Raqad Syndrome
Hypopigmentation of the skin, Low-set ears OMIM:616459
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Melanocytic nevus, Fine... ORPHA:978
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Griscelli Syndrome
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme... ORPHA:381
Squalene Synthase Deficiency
Macrotia, Posteriorly rotated ears, Abnormality of hair pigmentation, Low-set ears OMIM:618156
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin OMIM:309400
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Protruding ear, Abnormality of skin pigmentation, Fine hair, Spar... ORPHA:1806
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Neurofibromatosis, Familial Spinal
Freckling, Cafe-au-lait spot OMIM:162210
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti... ORPHA:50815
Trigeminal Neuralgia
Allodynia ORPHA:221091
X-Linked Recessive Ocular Albinism
Freckling, Giant melanosomes in melanocytes, Ocular albinism, Iris hypopigmentation ORPHA:54
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormality of skin pigmentation, Premature graying of hair, Abnormal hair morphology ORPHA:1979
Terminal Osseous Dysplasia
Abnormality of skin pigmentation, Low-set ears OMIM:300244
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Congenital sensorineural hearing impairment, Sy... OMIM:193500
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Low-set ears, Hypertrichosis OMIM:612379
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism OMIM:614075
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation ORPHA:834
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Hypoplastic nipples... OMIM:103285
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Brittle Cornea Syndrome 1
Red hair, Hearing impairment OMIM:229200
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, White hair, Ocular albinism, Generalized hypopigmentation, Hearing impairment ORPHA:2720
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of skin pigmentation, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow ORPHA:75496
Gastrointestinal Stromal Tumor
Hyperpigmentation of the skin OMIM:606764
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation, Low-set ears ORPHA:2180
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Incontinentia Pigmenti
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Abnormality of skin pigmentati... OMIM:308300
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigm... ORPHA:163746
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation ORPHA:1414
Xeroderma Pigmentosum, Complementation Group C
Freckling, Hypopigmentation of the skin OMIM:278720
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... ORPHA:79430
Craniolenticulosutural Dysplasia
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th... ORPHA:50814
Dyskeratosis Congenita, Digenic
Abnormality of skin pigmentation, Alopecia, Sparse eyelashes, Nail dystrophy OMIM:620040
Mandibuloacral Dysplasia
Abnormality of skin pigmentation, Alopecia, Sparse hair, Hypoplastic fingernail ORPHA:2457
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... ORPHA:84064
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold... ORPHA:1974
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n... ORPHA:464
Koolen-De Vries Syndrome
Hypopigmentation of hair, Protruding ear, Overfolded helix, Abnormality of hair texture ORPHA:96169
Brittle Cornea Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of hair pigmentation ORPHA:90354
Hennekam-Beemer Syndrome
Generalized hyperpigmentation, Abnormality of skin pigmentation, Microtia, Conductive hearing imp... ORPHA:2135
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Loss of eyelashes, Hypopigmentation of the skin, Hyperpigmentation of t... OMIM:263700
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat... ORPHA:920
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Mismatch Repair Cancer Syndrome 1
Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin OMIM:276300
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, External ear malformation, Sensorineural ... ORPHA:233
Prader-Willi Syndrome
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... OMIM:176270
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Iris hypopigmentation ORPHA:2719
Vici Syndrome
Hypopigmentation of hair, Albinism, Sensorineural hearing impairment, Ocular albinism, Low-set ea... OMIM:242840
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
3Q29 Microdeletion Syndrome
Abnormality of skin pigmentation, Macrotia, Low-set ears ORPHA:65286
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Lip hyperpigmentation, Frontal balding, Fine hair ORPHA:139399
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... ORPHA:177907
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Benign Schwannoma
Allodynia ORPHA:252164
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Cafe-au-lait spot, Hearing impairment OMIM:227650
Alkaptonuria
Abnormality of skin pigmentation, Irregular hyperpigmentation, Abnormality of the nail ORPHA:56
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia OMIM:603041
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Posteriorly rotated ears, Hearing impairme... OMIM:619488
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Ring Chromosome 13 Syndrome
Alopecia, Posteriorly rotated ears, Macrotia, Abnormality of skin pigmentation, Cafe-au-lait spot ORPHA:96176
Ring Chromosome 7 Syndrome
Highly arched eyebrow, Prominent crus of helix, Low anterior hairline, Abnormality of skin pigmen... ORPHA:1449
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... OMIM:219800
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair, Low-set, posteriorly rotated ears, Sensori... ORPHA:818

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 Mc1r

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 Mc1r.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. Scientific reports (August 2019) Mc1rtm1.1(KOMP)Vlcg PMC6672016

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mc1rtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mc1rtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mc1rtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Mc1rtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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