Gene Summary

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

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
increased circulating creatine kinase level Trpm1tm1b(KOMP)Wtsi HOM Early adult 1.22×10-05
impaired pupillary reflex Trpm1tm1b(KOMP)Wtsi HOM Early adult 1.55×10-22
mydriasis Trpm1tm1b(KOMP)Wtsi HOM Early adult 1.55×10-22
limb grasping Trpm1tm1b(KOMP)Wtsi HOM Early adult 4.94×10-07
impaired glucose tolerance Trpm1tm1b(KOMP)Wtsi HOM Early adult 8.54×10-07
increased circulating HDL cholesterol level Trpm1tm1b(KOMP)Wtsi HOM   Early adult 4.93×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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 0.69% (4 of 580)
aorta 0.17% (1 of 573)
bone 0.0%
brain 0.52% (3 of 577)
brainstem 0.35% (2 of 574)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 568)
cerebellum 0.52% (3 of 573)
cerebral cortex 0.35% (2 of 577)
esophagus 1.75% (7 of 401)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 580)
hippocampus 0.53% (3 of 566)
hypothalamus 0.34% (2 of 582)
kidney 3.48% (20 of 575)
large intestine 1.74% (10 of 576)
liver 0.0%
lower urinary tract 0.17% (1 of 576)
lung 0.35% (2 of 579)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
olfactory lobe 0.35% (2 of 579)
oral epithelium 0.0%
ovary 0.18% (1 of 569)
oviduct 0.0%
pancreas 0.86% (5 of 579)
parathyroid gland 0.18% (1 of 557)
peripheral nervous system 0.35% (2 of 570)
peyers patch 0.0%
pituitary gland 0.17% (1 of 575)
prostate gland 2.09% (12 of 574)
skeletal muscle 0.0%
skin 0.17% (1 of 575)
small intestine 1.57% (9 of 574)
spinal cord 0.53% (3 of 571)
spleen 0.52% (3 of 576)
stomach 2.25% (13 of 579)
striatum 0.52% (3 of 578)
testis 1.04% (6 of 576)
thymus 0.17% (1 of 576)
thyroid gland 2.76% (16 of 580)
trachea 0.52% (3 of 579)
uterus 0.0%
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 1.23% (6 of 489)
ear 0.2% (1 of 493)
embryo 0.2% (1 of 489)
eye 0.2% (1 of 490)
footplate 0.2% (1 of 491)
forebrain 0.2% (1 of 496)
forelimb 0.2% (1 of 493)
handplate 0.2% (1 of 493)
head 1.02% (5 of 490)
heart 0.0%
hindbrain 1.25% (6 of 480)
hindlimb 0.2% (1 of 496)
liver 0.2% (1 of 489)
lung 0.21% (1 of 485)
mandibular process 0.2% (1 of 489)
maxillary process 0.2% (1 of 488)
midbrain 0.2% (1 of 490)
oral cavity 0.2% (1 of 491)
skin 0.21% (1 of 484)
tail 0.21% (1 of 485)
tail somite group 0.2% (1 of 490)

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 Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

5 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Auditory Brain Stem Response

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

4 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
Color vision defect, Hypermetropia, Myopia, Congenital stationary night blindness with abnormal f... ORPHA:215
Night Blindness, Congenital Stationary, Type 1C
Reduced visual acuity, Congenital stationary night blindness, Myopia 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
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Optic atrophy, Diabetes mellitus OMIM:614296
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Type II diabetes mellitus, Abnormal circulating phytanic acid concentration ORPHA:247815
Acute Zonal Occult Outer Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial ... ORPHA:284454
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Optic Atrophy 1
Central scotoma, Visual impairment, Abnormal amplitude of pattern reversal visual evoked potentia... OMIM:165500
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Reduced visual acuity OMIM:618195
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma, Hyperinsulinemic hypoglycemia, Diabetes mellitus,... OMIM:147630
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concent... OMIM:615703
Optic Atrophy 8
Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Visual impairment OMIM:616648
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Stargardt Disease
Central scotoma, Color vision defect, Abnormality of visual evoked potentials, Nyctalopia, Reduce... ORPHA:827
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Abnormal pupil morphology ORPHA:101082
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis, Hyponatremia ORPHA:178478
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Type II diabetes mellitus ORPHA:181393
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:1389
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Iatrogenic Botulism
Mydriasis ORPHA:254509
Wound Botulism
Mydriasis ORPHA:178475
Serotonin Syndrome
Mydriasis, Tremor ORPHA:43116
Inhalational Botulism
Mydriasis ORPHA:254504
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Mydriasis, Hyperbilirubinemia, Optic disc pallor, Optic atrophy OMIM:259720
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology OMIM:160565
Pituitary Apoplexy
Hypoglycemia, Mydriasis, Hyponatremia, Increased circulating cortisol level ORPHA:95613
Hepatic Lipase Deficiency
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Botulism
Mydriasis ORPHA:1267
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Canavan Disease
Blindness, Abnormality of visual evoked potentials, Visual impairment ORPHA:141
Foodborne Botulism
Mydriasis ORPHA:228371
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Scorpion Envenomation
Glycosuria, Hypokalemia, Miosis, Increased circulating creatine kinase MB isoform, Mydriasis, Inc... ORPHA:466677
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials, Reduced visual acuity ORPHA:357225
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypercholesterolemia, Hypocalcemia, Diabetes mellitus, Hypertriglyceridemia OMIM:612526
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, M... OMIM:309300
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria, Miosis OMIM:156600
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:603776
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Hypoplasia of the fovea, Astigmatism, Abnormal pupil morphology, Ocu... ORPHA:54
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Mydriasis, Tremor ORPHA:90068
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Alternating Hemiplegia Of Childhood
Mydriasis, Dystonia, Tremor ORPHA:2131
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Oculocutaneous Albinism Type 1
Amblyopia, Abnormality of visual evoked potentials, Photophobia, Reduced visual acuity ORPHA:352731
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Dystonia, Hypercholesterolemia, Head tremor, Elevated circulating cre... ORPHA:64753
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Abnormality of visual evoked potentials OMIM:617523
Arachnoid Cyst
Mydriasis ORPHA:2356
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials, Progressive visual loss, Constriction of peripheral visu... ORPHA:1215
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Cataract, Increased leve... ORPHA:79237
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Visual loss OMIM:125310
Temple Syndrome
Maturity-onset diabetes of the young, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Mohr-Tranebjaerg Syndrome
Visual loss, Central scotoma, Color vision defect, Abnormality of visual evoked potentials, Photo... ORPHA:52368
Craniotubular Dysplasia, Ikegawa Type
Optic neuropathy, Mydriasis, Optic nerve compression, Optic atrophy OMIM:619727
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Action tremor, Diabetes mellitus, Hyperuricemia ORPHA:77296
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Short Syndrome
Abnormal anterior chamber morphology, Insulin resistance, Hypoplasia of the iris, Posterior embry... ORPHA:3163
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Central scotoma, Color vision defect, Slow decrease in v... OMIM:601152
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Visual impairment ORPHA:1933
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment ORPHA:96
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Progressive visual loss, Progressive night blindness, Constriction of peripheral visual field, Un... ORPHA:436245
Coats Disease
Retinal telangiectasia, Leukocoria, Exudative retinal detachment OMIM:300216
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Dystonia, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Visual loss, Blindness, Progressive visual loss, Undetectable visual evoked potentials, Visual im... OMIM:601338
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis, Retinal infarction OMIM:613834
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials, High myopia OMIM:614457
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria ORPHA:79138
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Myopia ORPHA:2971
Hyperlipoproteinemia, Type V
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Diabete... OMIM:144650
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology ORPHA:2119
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebral visual impairment, Abnormality of visual evoked potentials, Hypermetropia, Myopia OMIM:616875
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Friedreich Ataxia
Abnormality of visual evoked potentials, Visual field defect, Visual impairment, Reduced visual a... OMIM:229300
Mody
Glycosuria, Retinopathy, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Elevated hem... ORPHA:552
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Photophobia, Visual impairment ORPHA:79431
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Late Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Abnormal amplitude of flash visual evoked potentials, Myopia, Blindness, Abnormality... ORPHA:168491
Congenital Generalized Lipodystrophy
Increased C-peptide level, Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Diabetes m... ORPHA:528
Late-Infantile/Juvenile Krabbe Disease
Blindness, Abnormality of visual evoked potentials, Visual loss, Visual impairment ORPHA:206443
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, ... ORPHA:2457
Dysbetalipoproteinemia
Corneal arcus, Hypercholesterolemia, Xanthelasma, Diabetes mellitus, Hypertriglyceridemia, Increa... ORPHA:412
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Visual loss OMIM:256600
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Tremor, Acute ... ORPHA:247585
Laron Syndrome
Hypoglycemia, Hypercholesterolemia ORPHA:633
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Pierson Syndrome
Hypoproteinemia, Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia ... OMIM:609049
Congenital Stationary Night Blindness
Color vision defect, Hypermetropia, Myopia, Congenital stationary night blindness with abnormal f... ORPHA:215
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Anisocoria
Anisocoria OMIM:106240
Facial Spasm
Anisocoria OMIM:134300
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... OMIM:238600
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Iridodonesis, Hypoplasia of the iris, Hypercholesterolemia,... ORPHA:2479
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials, Myopia ORPHA:480898
Familial Dysautonomia
Hyponatremia, Heterochromia iridis, Corneal opacity, Abnormal pupil morphology, Corneal erosion, ... ORPHA:1764
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Smith-Magenis Syndrome
Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Corneal opacity, Hypotriglyceridemia, Lens... ORPHA:85167
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Triopia
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Retinal detachment, Abnormal pupil morphology, Limbal dermoid ORPHA:2969
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Ectopia pupillae, Hypoplasia of the iris OMIM:602482
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Duane Retraction Syndrome
Central heterochromia, Chorioretinal coloboma, Blepharospasm, Microcornea, Optic disc hypoplasia,... ORPHA:233
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Hypercholesterolemia ORPHA:401923
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Visual impairment ORPHA:485421
Megalocornea-Mental Retardation Syndrome
Hypoplasia of the iris, Megalocornea, Iridodonesis, Hypercholesterolemia OMIM:249310
Plague
Mydriasis, Conjunctival hyperemia ORPHA:707
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Optic atrophy, Anisocoria OMIM:231550
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Infantile Neuroaxonal Dystrophy
Blindness, Abnormality of visual evoked potentials ORPHA:35069
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment OMIM:219250
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Elevate... ORPHA:79240
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia... OMIM:151660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Persistent pupillary membrane, Cataract, Peters anomaly, Elevated circulating creatine kinase con... OMIM:613150
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309256
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309263
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae, Optic atrophy OMIM:618727
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral visual impairment, Abnormality of visual evoked potentials, Visual loss OMIM:203700
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Hypoplasia of the iris, Posterior embryotoxon, ... OMIM:180500
Smith-Magenis Syndrome
Microcornea, Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Slow pupillary light response, Tonic pupil, Anisocoria ORPHA:90658
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Astigmatism, Papilledema, Rod-cone dystrophy, Retinal vascular tortuosity OMIM:619471
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Knobloch Syndrome 1
Band keratopathy, Vitreoretinopathy, Developmental cataract, Persistent pupillary membrane, Perip... OMIM:267750
Alagille Syndrome
Abnormal pupil morphology, Keratoconus, Corneal dystrophy ORPHA:52
Infantile Krabbe Disease
Blindness, Abnormality of visual evoked potentials, Visual loss, Photophobia ORPHA:206436
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Hypercholesterolemia, Elevated circulating creatine kinase co... ORPHA:264580
Charcot-Marie-Tooth Disease Type 4C
Abnormality of the optic nerve, Head tremor, Abnormal pupillary light reflex, Optic atrophy, Anis... ORPHA:99949
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:278000
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Norrie Disease
Abnormal vitreous humor morphology, Hypoplasia of the iris, Sclerocornea, Optic atrophy, Cataract... ORPHA:649
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Fasting hypoglycemia, Hypertriglyceridemia, H... ORPHA:370
White-Sutton Syndrome
Mild myopia, Hypermetropia, Myopia, Abnormality of visual evoked potentials, Visual impairment OMIM:616364
Micro Syndrome
Cerebral visual impairment, Abnormality of visual evoked potentials ORPHA:2510
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Hypercholesterolemia ORPHA:69663
Nephronophthisis 11
Retinal degeneration, Anisocoria OMIM:613550
Trichinellosis
Central retinal artery occlusion, Retinal hemorrhage, Abnormality of the optic nerve, Abnormal uv... ORPHA:863
Night Blindness, Congenital Stationary, Type 1C
Reduced visual acuity, Congenital stationary night blindness, Myopia OMIM:613216
Hermansky-Pudlak Syndrome
Myopia, Amblyopia, Abnormality of visual evoked potentials, Photophobia, Visual impairment ORPHA:79430
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:210250
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Hyperuricemia, Diabetes mellitus, Hypert... ORPHA:90041
Retinoblastoma
Vitritis, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukocoria OMIM:180200
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hypokalemia, Hyponatremia, Chorioretinal dysplasia, Hypercholesterolemia, Hypoammone... ORPHA:534
Retinoblastoma
Retinal calcification, Subretinal pigment epithelium hemorrhage, Uveitis, Heterochromia iridis, A... ORPHA:790
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Revesz Syndrome
Leukocoria, Megalocornea, Exudative retinopathy OMIM:268130
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309271
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Lipodystrophy, Familial Partial, Type 7
Developmental cataract, Insulin resistance, Hypercholesterolemia, Cataract, Pigmentary retinopath... OMIM:606721
Alagille Syndrome 1
Band keratopathy, Abnormal anterior chamber morphology, Hypercholesterolemia, Posterior embryotox... OMIM:118450
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Visual impairment ORPHA:512
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperprolinemia, Intraalveola... ORPHA:470
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia ORPHA:90674
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Mogs-Cdg
Abnormality of visual evoked potentials ORPHA:79330
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hyperuricemia, Xanthel... ORPHA:79259
Alacrima, Achalasia, And Mental Retardation Syndrome
Anisocoria OMIM:615510
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment ORPHA:1556
Lowe Oculocerebrorenal Syndrome
Developmental cataract, Hypercholesterolemia, Bicarbonaturia, Elevated amniotic fluid alpha-fetop... OMIM:309000
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Hypertriglyceridemia, Steatorrhea ORPHA:275761
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:667
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Astigmatism, Diabetes mellitus, Poste... ORPHA:273
Superficial Siderosis
Anisocoria ORPHA:247245
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Cockayne Syndrome B
Abnormality of visual evoked potentials, Hypermetropia OMIM:133540
Cockayne Syndrome A
Abnormality of visual evoked potentials, Hypermetropia OMIM:216400
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:909
Witteveen-Kolk Syndrome
Iris coloboma, Anisocoria OMIM:613406
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Retinal coloboma, Optic atrophy, Microcornea, Astigmatism, Cataract, Iris atrophy, Abnormal pupil... ORPHA:261552
Mowat-Wilson Syndrome
Chorioretinal coloboma, Microcornea, Cataract, Ectopia pupillae, Iris coloboma OMIM:235730
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Rieger anomaly, Iris coloboma OMIM:194190
Homozygous Familial Hypercholesterolemia
Optic neuropathy, Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Hypokalemia, Keratoconus ORPHA:286
Sponastrime Dysplasia
Congenital aphakia, Cataract, Microcoria ORPHA:93357
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... 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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