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Gene: Trpm1 MGI:1330305

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Gene Summary

Name:
transient receptor potential cation channel, subfamily M, member 1
Synonyms:
LTRPC1,  melastatin,  4732499L03Rik,  Mlsn1

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
increased circulating HDL cholesterol level Trpm1tm1b(KOMP)Wtsi HOM   Early adult 4.93×10-05
impaired pupillary reflex Trpm1tm1b(KOMP)Wtsi HOM Early adult 1.54×10-22
increased circulating creatine kinase level Trpm1tm1b(KOMP)Wtsi HOM Early adult 1.16×10-05
mydriasis Trpm1tm1b(KOMP)Wtsi HOM Early adult 1.54×10-22
limb grasping Trpm1tm1b(KOMP)Wtsi HOM Early adult 5.69×10-07
impaired glucose tolerance Trpm1tm1b(KOMP)Wtsi HOM Early adult 8.54×10-07

Download data as:  TSV  XLS

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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
Eye  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount 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)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium 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)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
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)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Echo

M-Mode Images

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

5 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 Images

View images

Human diseases caused by Trpm1 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 Trpm1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Hypermetropia, Color vision defect, Con... ORPHA:215
Night Blindness, Congenital Stationary, Type 1C
Myopia, Reduced visual acuity, Congenital stationary night blindness OMIM:613216

The table below shows human diseases predicted to be associated to Trpm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... ORPHA:39044
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... ORPHA:284454
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal circulating phytanic acid concentration, Type II diabetes mellitus, Mydriasis ORPHA:247815
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Corneal arcus, Hypercholesterolemia OMIM:144300
Optic Atrophy 1
Tritanomaly, Red-green dyschromatopsia, Centrocecal scotoma, Central scotoma, Abnormal amplitude ... OMIM:165500
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma OMIM:616428
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Optic Atrophy 8
Visual loss, Abnormality of pattern visual evoked potentials, Central scotoma, Visual impairment OMIM:616648
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Increased LDL cholesterol concentration, Decreased... OMIM:615703
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cherubism
Macular scar, Optic neuropathy, Marcus Gunn pupil OMIM:118400
Stargardt Disease
Central scotoma, Color vision defect, Reduced visual acuity, Abnormality of visual evoked potenti... ORPHA:827
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... OMIM:610947
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Hypercholesterolemia ORPHA:181393
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis, Hyponatremia ORPHA:178478
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:1389
Iatrogenic Botulism
Mydriasis ORPHA:254509
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Wound Botulism
Mydriasis ORPHA:178475
Inhalational Botulism
Mydriasis ORPHA:254504
Serotonin Syndrome
Tremor, Mydriasis ORPHA:43116
Pituitary Apoplexy
Mydriasis, Hypoglycemia, Increased circulating cortisol level, Hyponatremia ORPHA:95613
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Botulism
Mydriasis ORPHA:1267
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Canavan Disease
Abnormality of visual evoked potentials, Blindness, Visual impairment ORPHA:141
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Foodborne Botulism
Mydriasis ORPHA:228371
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Elevated circulating creatine kinase concentration OMIM:160565
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Optic atrophy, Hyperbilirubinemia, Hypocalcemia, Optic disc pallor OMIM:259720
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Aniridia 1
Ectopia pupillae, Corneal erosion, Retinal vascular tortuosity, Glucose intolerance, Hypoplasia o... OMIM:106210
Scorpion Envenomation
Mydriasis, Glycosuria, Hypokalemia, Increased circulating NT-proBNP concentration, Tremor, Hyperg... ORPHA:466677
Primary Non-Essential Cutis Verticis Gyrata
Reduced visual acuity, Abnormality of pattern visual evoked potentials ORPHA:357225
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... OMIM:309300
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Choreoathetosis, Elevated circulating creatine kinase concentration, Elevated ci... ORPHA:64753
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Miosis OMIM:156600
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Corneal arcus, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... ORPHA:54
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
Alternating Hemiplegia Of Childhood
Tremor, Choreoathetosis, Dystonia, Mydriasis ORPHA:2131
Intellectual Developmental Disorder And Retinitis Pigmentosa
Reduced visual acuity, Nyctalopia, Abnormal flash visual evoked potentials OMIM:618195
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Corneal arcus, Xanthelasma OMIM:144010
Cocaine Intoxication
Tremor, Mydriasis, Elevated circulating creatine kinase concentration ORPHA:90068
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Multisystemic Smooth Muscle Dysfunction Syndrome
Retinal infarction, Mydriasis OMIM:613834
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Dystonia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterol... OMIM:616267
Norrie Disease
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, ... OMIM:310600
Oculocutaneous Albinism Type 1
Amblyopia, Abnormality of visual evoked potentials, Photophobia, Reduced visual acuity ORPHA:352731
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... OMIM:221900
Phacoanaphylactic Uveitis
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Anterior chamber flare grade 1+, Abn... ORPHA:209959
Arachnoid Cyst
Mydriasis ORPHA:2356
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Hypoglycemia, Catar... ORPHA:79237
Autosomal Dominant Optic Atrophy Plus Syndrome
Constriction of peripheral visual field, Progressive visual loss, Abnormality of visual evoked po... ORPHA:1215
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypercholesterolemia, Dystonia, Hypoa... OMIM:208920
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia,... OMIM:207750
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Hyperuricemia, Action tremor, Hypercholesterolemia ORPHA:77296
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Central scotoma, Visual loss, Color vision defect, Visual impairment,... ORPHA:52368
Craniotubular Dysplasia, Ikegawa Type
Optic neuropathy, Mydriasis, Optic nerve compression, Optic atrophy OMIM:619727
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Visual impairment ORPHA:1933
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Color vision defect, Slow decrease in visual acuity, Abnormality of visual evoked potentials, Cen... OMIM:601152
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment ORPHA:96
Short Syndrome
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Insulin r... ORPHA:3163
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Progressive visual loss, Progressive night blindness, Un... ORPHA:436245
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Progressive visual loss, Undetectable visual evoked potentials, Blindness, Visual loss, Visual im... OMIM:601338
Abdominal Obesity-Metabolic Syndrome 3
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl... OMIM:615812
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Peroxisomal Acyl-Coa Oxidase Deficiency
Myopia, Abnormality of visual evoked potentials ORPHA:2971
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Macular hypoplasia, L... ORPHA:91495
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
High myopia, Photophobia, Abnormality of visual evoked potentials OMIM:614457
Hyperlipoproteinemia, Type V
Decreased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Diabetes melli... OMIM:144650
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Abnormality of visual evoked potentials OMIM:617523
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology ORPHA:2119
Mody
Transient neonatal diabetes mellitus, Retinopathy, Diabetic ketoacidosis, Glycosuria, Neonatal hy... ORPHA:552
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract OMIM:619649
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Friedreich Ataxia
Visual field defect, Reduced visual acuity, Abnormality of visual evoked potentials, Visual impai... OMIM:229300
Alexander Disease
Microcoria OMIM:203450
Oculocutaneous Albinism Type 1A
Photophobia, Abnormality of visual evoked potentials, Visual impairment ORPHA:79431
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Myopia, Cerebral visual impairment, Hypermetropia, Abnormality of visual evoked potentials OMIM:616875
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Abnormality of visual evoked potentials OMIM:125310
Mandibuloacral Dysplasia
Hyperinsulinemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-resist... ORPHA:2457
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Increased C-peptide level, Insulin resistance, Diabetes mellitus, Hypercholeste... ORPHA:528
Dysbetalipoproteinemia
Hypercholesterolemia, Corneal arcus, Diabetes mellitus, Increased LDL cholesterol concentration, ... ORPHA:412
Mepan Syndrome
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:508093
Late-Infantile/Juvenile Krabbe Disease
Visual loss, Abnormality of visual evoked potentials, Blindness, Visual impairment ORPHA:206443
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young OMIM:616222
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma, Hypertriglyceridemia,... OMIM:277460
Late Infantile Neuronal Ceroid Lipofuscinosis
Blindness, Visual loss, Myopia, Reduced visual acuity, Abnormality of visual evoked potentials, A... ORPHA:168491
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Laron Syndrome
Hypoglycemia, Hypercholesterolemia ORPHA:633
Citrullinemia Type Ii
Acute hyperammonemia, Tremor, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipi... ORPHA:247585
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... OMIM:609049
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Hypermetropia, Color vision defect, Con... ORPHA:215
Neurodegeneration With Brain Iron Accumulation 2A
Visual loss, Abnormality of visual evoked potentials OMIM:256600
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Facial Spasm
Anisocoria OMIM:134300
Hyperlipoproteinemia, Type I
Lipemia retinalis, Lactescent serum, Hyperlipidemia, Hypercholesterolemia, Increased circulating ... OMIM:238600
Megalocornea-Intellectual Disability Syndrome
Megalocornea, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Iridodonesis, Abnormal a... ORPHA:2479
Familial Dysautonomia
Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis, Corneal opacity,... ORPHA:1764
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Myopia, Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:480898
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Triopia
Abnormal pupil morphology, Iris coloboma, Microcornea ORPHA:3374
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin... ORPHA:85167
Proteus-Like Syndrome
Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Retinal detachment ORPHA:2969
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Hypercholesterolemia ORPHA:401923
Smith-Magenis Syndrome
Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Duane Retraction Syndrome
Abnormal pupil morphology, Blepharospasm, Central heterochromia, Optic disc hypoplasia, Microcorn... ORPHA:233
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Peripapillary atrophy, Limb dystonia, Polycoria, Retinal arteriolar tortuosit... OMIM:175780
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... OMIM:602482
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Visual impairment ORPHA:485421
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Plague
Mydriasis, Conjunctival hyperemia ORPHA:707
Megalocornea-Mental Retardation Syndrome
Hypoplasia of the iris, Megalocornea, Iridodonesis, Hypercholesterolemia OMIM:249310
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Axenfeld-Rieger Syndrome, Type 1
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... OMIM:180500
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Blindness ORPHA:35069
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Elevated circulating creatine kinase concentration, Buphthalmos, Cataract, Peters anomaly, Persis... OMIM:613150
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Corneal arcus, Elevated circulating sitosterol c... OMIM:210250
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, Recurrent hypoglycemia,... ORPHA:79240
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Insulin-res... OMIM:151660
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Decreased circulating cortisol level, Optic atrophy OMIM:231550
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Smith-Magenis Syndrome
Retinal detachment, Hypertriglyceridemia, Microcornea, Hypercholesterolemia ORPHA:819
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Knobloch Syndrome 1
Peripapillary atrophy, Iris transillumination defect, Macular hypoplasia, Slow pupillary light re... OMIM:267750
Metachromatic Leukodystrophy, Late Infantile Form
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309263
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Astigmatism, Cataract, Optic atrophy, Ectopia pupillae OMIM:618727
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Charcot-Marie-Tooth Disease Type 1E
Slow pupillary light response, Tonic pupil, Anisocoria, Abnormal pupil morphology ORPHA:90658
Distal Monosomy 6P
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... ORPHA:96125
Alagille Syndrome
Abnormal pupil morphology, Corneal dystrophy, Keratoconus ORPHA:52
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Infantile Krabbe Disease
Visual loss, Photophobia, Abnormality of visual evoked potentials, Blindness ORPHA:206436
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Impaired glucose tolerance, Calcinosis, Hyperlipidemia, I... OMIM:248370
Bardet-Biedl Syndrome 20
Rod-cone dystrophy, Retinal vascular tortuosity, Astigmatism, Hypercholesterolemia, Papilledema OMIM:619471
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Lysosomal Acid Lipase Deficiency
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Micro Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:2510
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypoglycemia, Hypercholesterolemia, Fasting h... ORPHA:264580
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Anisocoria, Head tremor, Abnormal optic nerve morphology, Abnormal pupillary light... ORPHA:99949
Norrie Disease
Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Abn... ORPHA:649
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine k... ORPHA:370
White-Sutton Syndrome
Mild myopia, Visual impairment, Myopia, Hypermetropia, Abnormality of visual evoked potentials OMIM:616364
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Hypercholesterolemia ORPHA:69663
Trichinellosis
Central retinal artery occlusion, Retinal hemorrhage, Conjunctivitis, Abnormal optic nerve morpho... ORPHA:863
Hermansky-Pudlak Syndrome
Amblyopia, Visual impairment, Myopia, Photophobia, Abnormality of visual evoked potentials ORPHA:79430
Night Blindness, Congenital Stationary, Type 1C
Myopia, Reduced visual acuity, Congenital stationary night blindness OMIM:613216
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Persistent pupillary membrane, Microcornea OMIM:257850
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract ORPHA:2714
Oculocerebrorenal Syndrome Of Lowe
Abnormal pupil morphology, Hyperaldosteronism, Hyponatremia, Lentiglobus, Hypophosphatemia, Hypok... ORPHA:534
Retinoblastoma
Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Vitritis, Leukocoria OMIM:180200
Retinoblastoma
Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Leukocoria, Subretinal pigment epithe... ORPHA:790
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Hypercholesterolemia, Hyperp... ORPHA:90041
Metachromatic Leukodystrophy, Adult Form
Reduced visual acuity, Abnormality of visual evoked potentials ORPHA:309271
Revesz Syndrome
Leukocoria, Megalocornea, Exudative retinopathy OMIM:268130
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Sclerocornea, Cataract, Microcornea OMIM:615877
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Impaired glucose tolerance, Insulin resistance, Type I diabetes mellitus,... OMIM:606721
Alagille Syndrome 1
Posterior embryotoxon, Axenfeld anomaly, Microcornea, Cataract, Chorioretinal atrophy, Band kerat... OMIM:118450
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Lysinuric Protein Intolerance
Hyperalaninemia, Hyperglycinemia, Intraalveolar phospholipid accumulation, Hyperglutaminemia, Ste... ORPHA:470
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Visual impairment ORPHA:512
Mogs-Cdg
Abnormality of visual evoked potentials ORPHA:79330
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Hypoglycemic seizures, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hypercholesterol... ORPHA:79259
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Visual loss, Cerebral visual impairment, Abnormality of visual evoked potentials OMIM:203700
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Corneal scarring, Dense posterior cortical cataract, D... OMIM:309000
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria ORPHA:1556
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria OMIM:615510
Scalp-Ear-Nipple Syndrome
Anisocoria, Iris coloboma, Developmental cataract, Cataract OMIM:181270
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:667
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Steinert Myotonic Dystrophy
Hyperinsulinemia, Insulin resistance, Posterior subcapsular cataract, Diabetes mellitus, Astigmat... ORPHA:273
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Superficial Siderosis
Anisocoria ORPHA:247245
Cockayne Syndrome B
Hypermetropia, Abnormality of visual evoked potentials OMIM:133540
Cockayne Syndrome A
Hypermetropia, Abnormality of visual evoked potentials OMIM:216400
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:909
Wolf-Hirschhorn Syndrome
Iris coloboma, Rieger anomaly, Ectopia pupillae OMIM:194190
Witteveen-Kolk Syndrome
Anisocoria, Type II diabetes mellitus, Iris coloboma, Cataract OMIM:613406
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pupil morphology, Optic atrophy, Axenfeld anomaly, Microcornea, Astigmatism, Iris colobo... ORPHA:261552
Mowat-Wilson Syndrome
Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Ectopia pupillae OMIM:235730
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Optic neuropathy, Hypercholesterolemia ORPHA:391665
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Hypokalemia, Keratoconus ORPHA:286
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia ORPHA:93357
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... OMIM:619534

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 Trpm1

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 Trpm1.

No publications found that use IMPC mice or data for Trpm1.

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MGI Allele Allele Type Produced
Trpm1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Trpm1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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