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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
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
increased circulating HDL cholesterol level Trpm1tm1b(KOMP)Wtsi HOM   Early adult 4.93×10-05
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

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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Echo

M-Mode Images

32 Images

View images
Adult LacZ

LacZ Images Wholemount

5 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A 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

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
Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund... ORPHA:215
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Myopia, Reduced visual acuity 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
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Optic Atrophy 5
Constriction of peripheral visual field, Central scotoma, Abnormality of pattern visual evoked po... OMIM:610708
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia 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
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Optic Atrophy 1
Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Abnormal amplitude of pattern ... OMIM:165500
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Optic Atrophy 8
Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Visual impairment OMIM:616648
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Stargardt Disease
Central scotoma, Nyctalopia, Reduced visual acuity, Abnormality of visual evoked potentials, Colo... ORPHA:827
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Infant Botulism
Hyponatremia, Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:1389
Iatrogenic Botulism
Mydriasis ORPHA:254509
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Wound Botulism
Mydriasis ORPHA:178475
Inhalational Botulism
Mydriasis ORPHA:254504
Serotonin Syndrome
Tremor, Mydriasis ORPHA:43116
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level, Hypoglycemia, Mydriasis 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
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Elevated circulating creatine kinase concentration OMIM:160565
Foodborne Botulism
Mydriasis ORPHA:228371
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Optic atrophy, Hypocalcemia, Hyperbilirubinemia, Mydriasis OMIM:259720
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials, Reduced visual acuity ORPHA:357225
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamb... OMIM:309300
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia OMIM:612526
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Miosis, Tremor, Glycosuria, Hypokalemia, Increased... ORPHA:466677
Miller Fisher Syndrome
Anisocoria, Mydriasis ORPHA:98919
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma OMIM:603776
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Alternating Hemiplegia Of Childhood
Tremor, Mydriasis, Choreoathetosis, Dystonia ORPHA:2131
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Nyctalopia, Reduced visual acuity OMIM:618195
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma OMIM:144010
Multisystemic Smooth Muscle Dysfunction Syndrome
Retinal infarction, Mydriasis OMIM:613834
Cocaine Intoxication
Tremor, Elevated circulating creatine kinase concentration, Mydriasis ORPHA:90068
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst... OMIM:616267
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Oculocutaneous Albinism Type 1
Photophobia, Abnormality of visual evoked potentials, Reduced visual acuity, Amblyopia ORPHA:352731
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... OMIM:221900
Galactokinase Deficiency
Cataract, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Nuclear catara... ORPHA:79237
Arachnoid Cyst
Mydriasis ORPHA:2356
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia, Action tremor ORPHA:77296
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials, Constriction of peripheral visual field, Progressive vis... ORPHA:1215
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole... OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Mohr-Tranebjaerg Syndrome
Cerebral visual impairment, Visual loss, Central scotoma, Photophobia, Abnormality of visual evok... ORPHA:52368
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Visual impairment ORPHA:1933
Craniotubular Dysplasia, Ikegawa Type
Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis OMIM:619727
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
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Nyctalopia, Visual impairment ORPHA:96
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Blindness, Visual loss, Undetectable visual evoked potentials, Progressive visual loss, Visual im... OMIM:601338
Short Syndrome
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Insulin res... ORPHA:3163
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Progressive night blindness, Constriction of peripheral vi... ORPHA:436245
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Myopia ORPHA:2971
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Amblyopia OMIM:617523
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, Abnormality of visual evoked potentials, High myopia OMIM:614457
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... OMIM:144650
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Visual loss OMIM:256600
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Friedreich Ataxia
Abnormality of visual evoked potentials, Reduced visual acuity, Visual impairment, Visual field d... OMIM:229300
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Myopia, Hypermetropia, Cerebral visual impairment OMIM:616875
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Myopia OMIM:601455
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Oculocutaneous Albinism Type 1A
Photophobia, Visual impairment, Abnormality of visual evoked potentials ORPHA:79431
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Blindness, Visual loss, Abnormal amplitude of flash visual evoked potentials, Reduced vis... ORPHA:168491
Alexander Disease
Microcoria OMIM:203450
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Visual loss OMIM:125310
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypercholesterolem... ORPHA:528
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c... ORPHA:412
Mepan Syndrome
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:508093
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Visual loss, Blindness, Visual impairment ORPHA:206443
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young OMIM:616222
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Dystonia, Hypercholes... OMIM:277460
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... ORPHA:247585
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Laron Syndrome
Hypercholesterolemia, Hypoglycemia ORPHA:633
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Congenital Stationary Night Blindness
Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund... ORPHA:215
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Facial Spasm
Anisocoria OMIM:134300
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Myopia, Cerebral visual impairment ORPHA:480898
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Cataract, Miosis, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape, Slow pup... ORPHA:45358
Familial Dysautonomia
Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heteroc... ORPHA:1764
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Abnormal a... ORPHA:2479
Smith-Magenis Syndrome
Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... ORPHA:85167
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Visual impairment ORPHA:485421
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Proteus-Like Syndrome
Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis ORPHA:2969
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Duane Retraction Syndrome
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Blepharospasm, Microcorn... ORPHA:233
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Limb dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, Retinal arter... OMIM:175780
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Plague
Conjunctival hyperemia, Mydriasis ORPHA:707
Neuhauser Syndrome
Hypoplasia of the iris, Hypercholesterolemia, Megalocornea, Iridodonesis OMIM:249310
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Decreased circulating cortisol level, Optic atrophy OMIM:231550
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Corneal ... OMIM:210250
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, R... ORPHA:79240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m... OMIM:613150
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Blindness ORPHA:35069
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Smith-Magenis Syndrome
Microcornea, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia ORPHA:819
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Tonic pupil, Abnormal pupil morphology, Slow pupillary light response ORPHA:90658
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309256
Knobloch Syndrome 1
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch... OMIM:267750
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Optic atrophy, Cataract OMIM:618727
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309263
Infantile Krabbe Disease
Photophobia, Visual loss, Blindness, Abnormality of visual evoked potentials ORPHA:206436
Bardet-Biedl Syndrome 20
Papilledema, Astigmatism, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dystrophy OMIM:619471
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Charcot-Marie-Tooth Disease Type 4C
Abnormal pupillary light reflex, Optic atrophy, Anisocoria, Abnormal optic nerve morphology, Head... ORPHA:99949
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Fasting h... ORPHA:264580
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Micro Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:2510
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op... ORPHA:649
White-Sutton Syndrome
Myopia, Mild myopia, Hypermetropia, Abnormality of visual evoked potentials, Visual impairment OMIM:616364
Trichinellosis
Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea m... ORPHA:863
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia ORPHA:90065
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Hermansky-Pudlak Syndrome
Myopia, Amblyopia, Photophobia, Abnormality of visual evoked potentials, Visual impairment ORPHA:79430
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Myopia, Reduced visual acuity OMIM:613216
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Hyperproteinemia, Increased circulating renin level, Hyp... ORPHA:90041
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil m... ORPHA:534
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma OMIM:180200
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... ORPHA:790
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Revesz Syndrome
Exudative retinopathy, Megalocornea, Leukocoria OMIM:268130
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:309271
Lipodystrophy, Familial Partial, Type 7
Cataract, Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Developmental cat... OMIM:606721
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Alagille Syndrome 1
Posterior embryotoxon, Hypertriglyceridemia, Cataract, Band keratopathy, Chorioretinal atrophy, M... OMIM:118450
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Visual impairment ORPHA:512
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Mogs-Cdg
Abnormality of visual evoked potentials ORPHA:79330
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Xanthelasma, Hyperuric... ORPHA:79259
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials, Visual loss, Cerebral visual impairment OMIM:203700
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria OMIM:615510
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Scalp-Ear-Nipple Syndrome
Anisocoria, Cataract, Iris coloboma, Developmental cataract OMIM:181270
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria ORPHA:1556
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia 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
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Superficial Siderosis
Anisocoria ORPHA:247245
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Steinert Myotonic Dystrophy
Diabetes mellitus, Insulin resistance, Posterior subcapsular cataract, Hyperinsulinemia, Astigmat... ORPHA:273
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials, Visual impairment ORPHA:909
Cockayne Syndrome B
Abnormality of visual evoked potentials, Hypermetropia OMIM:133540
Cockayne Syndrome A
Abnormality of visual evoked potentials, Hypermetropia OMIM:216400
Witteveen-Kolk Syndrome
Anisocoria, Type II diabetes mellitus, Cataract, Iris coloboma OMIM:613406
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Iris coloboma, Rieger anomaly OMIM:194190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Abnormal pupil morphology, Optic atrophy, Microcornea, Ectopia pupillae, ... ORPHA:261552
Mowat-Wilson Syndrome
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma OMIM:235730
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy ORPHA:391665
Vascular Ehlers-Danlos Syndrome
Keratoconus, Hypokalemia, Abnormal pupil morphology ORPHA:286
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia ORPHA:93357

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.

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
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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