Gene Summary

Name:
tetratricopeptide repeat domain 37
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged urinary bladder Ttc37em1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to organogenesis Ttc37em1(IMPC)Tcp HOM   E9.5 0.00
cataract Ttc37em1(IMPC)Tcp HET   Early adult 3.75×10-07
increased circulating potassium level Ttc37em1(IMPC)Tcp HET Early adult 9.72×10-06
preweaning lethality, complete penetrance Ttc37em1(IMPC)Tcp HOM   Early adult 0.00
increased freezing behavior Ttc37em1(IMPC)Tcp HET Early adult 3.05×10-06

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

102 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

132 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Ttc37 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 Ttc37 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ttc37 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Trimethylaminuria, Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low se... ORPHA:468726
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Galactosemia Ii
Hypergalactosemia, Cataract, Galactosuria OMIM:230200
Aniridia 3
Cataract OMIM:617142
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Galactosemia Iv
Hypergalactosemia, Cataract OMIM:618881
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichomegaly
Cataract OMIM:190330
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Phenylketonuria
Anxiety, Cataract, Blue irides, Aggressive behavior, Increased level of hippuric acid in urine, I... OMIM:261600
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Cataract 47
Glycosuria, Microcornea, Cataract OMIM:612018
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Morm Syndrome
Micropenis, Cataract, Aggressive behavior ORPHA:75858
Pandas
Abnormal fear/anxiety-related behavior, Enuresis, Emotional lability, Irritability, Separation in... ORPHA:66624
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Myoglobinuria, Acute kidney injury OMIM:268200
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Cataract, Splenomegaly, Hepatomegaly OMIM:608885
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Bardet-Biedl Syndrome 18
Cataract, Renal insufficiency OMIM:615995
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Hepatomegaly OMIM:607906
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Pulverulent cataract, Nuclear cataract OMIM:600886
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:614736
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Hypokalemia, Cataract, Hyperamylasemia, Impaired renal tubular reabsorption of ... OMIM:604278
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Increased circulating renin level OMIM:610600
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Increased circulating renin level OMIM:203400
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hypokalemia, Polyuria, Renal magnesium wasting, Renal potassium wasting, Hypomagnesemia OMIM:618314
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Usher Syndrome Type 3
Anxiety, Cataract, Astigmatism, Iris hypopigmentation, Depression ORPHA:231183
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemia OMIM:146200
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Renal sodium wasting, Hyponatremia, Increased circulating renin level ORPHA:556037
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Anxiety, Cataract, Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalc... ORPHA:36913
Galactose Mutarotase Deficiency
Hypergalactosemia, Cataract, Hepatomegaly ORPHA:570422
Nathalie Syndrome
Cataract OMIM:255990
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:264350
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Renal sodium wasting, Hyponatremia, Increased circulating renin level ORPHA:556030
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Elevated circulating creatinine concentration, Nephrolithiasis, Di... OMIM:179800
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Cataract 11, Multiple Types
Cataract OMIM:610623
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Renal potassium wasting, Hypomag... ORPHA:564178
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Genetic Recurrent Myoglobinuria
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Recur... ORPHA:99845
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Splenomegaly, Hepatomegaly ORPHA:79238
Usher Syndrome Type 1
Cataract, Anxiety, Depression, Iris hypopigmentation ORPHA:231169
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Birk-Landau-Perez Syndrome
Hyperkalemia, Tubulointerstitial nephritis, Renal insufficiency OMIM:617595
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract, Decreased circulating ceruloplasmin concentration OMIM:614482
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Liddle Syndrome 3
Hypokalemia OMIM:618126
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury ORPHA:57
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Proximal tubulo... OMIM:241150
Aniridia 2
Cataract, Aniridia OMIM:617141
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Proximal Myotonic Myopathy
Cataract ORPHA:606
Liddle Syndrome
Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Hyponatremia ORPHA:682
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Hypoplasia of penis ORPHA:1381
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Hematuria OMIM:120433
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypercalciuria, Poly... OMIM:300971
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Aggressive behavior, Opacification of... OMIM:310600
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Hypomagnesemia 2, Renal
Hypokalemia, Renal insufficiency, Renal magnesium wasting, Hypomagnesemia, Hypocalciuria OMIM:154020
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cataract, Cystic renal dysplasia, Hepatomegaly OMIM:613730
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Hypokalemia, Polyuria OMIM:304900
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Anxiety, Cataract, Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalc... ORPHA:94089
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Increased circulating renin level, Hyperkalemia, Renal... ORPHA:427
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, R... OMIM:134600
Retinitis Pigmentosa 84
Cataract OMIM:618220
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Acute kidney injury, Anxiety, Hypocalcemia, Hyperkalemia, Urinary inco... ORPHA:94093
Galactosemia I
Hypergalactosemia, Cataract, Hepatomegaly, Aminoaciduria, Increased level of galactitol in plasma... OMIM:230400
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Cataract, Elevated transferrin satura... OMIM:606069
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Cataract, Hepatomegaly OMIM:615704
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Pellagra-Like Syndrome
Cataract OMIM:260650
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hematuria, Decreased urine output, Hyperkalemia, Hypocalcemia, Euphori... ORPHA:31826
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia, Nephropathy ORPHA:2238
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Cataract, Anterior lenticonus, Nephritis, Renal insuf... OMIM:203780
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Galactokinase Deficiency
Hypergalactosemia, Hepatosplenomegaly, Hypercholesterolemia, Cataract, Hepatomegaly, Increased le... ORPHA:79237
Cystinosis
Hypokalemia, Renal tubular dysfunction, Proteinuria, Corneal opacity, Aminoaciduria, Nephropathy,... ORPHA:213
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Elevated circulating creatinine concentration, Proteinuria, Hypouricemia... ORPHA:411634
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Myoglobinuria, Hyperp... ORPHA:423
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level, Renal insufficiency OMIM:177200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hypokalemia, Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis OMIM:611590
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Penoscrotal hy... ORPHA:90791
Mirage Syndrome
Hyperkalemia, Microphallus, Hyponatremia, Hypospadias OMIM:617053
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Aminoaciduria, Cataract, Hyperornithinemia ORPHA:414
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Acute Adrenal Insufficiency
Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increased circulating renin level, Hype... ORPHA:95409
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Familial Glucocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Hypernatriuria ORPHA:361
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Cataract, Hypokalemia, Hypocalcemia OMIM:175500
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Transient hypophosphatemia, Decreased urinary potassium,... ORPHA:79102
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Microcoria, Polycystic kidney dysplasia OMIM:263100
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Renal tubular dysfunction, Hyperphosphaturia,... OMIM:227810
Alpha-Mannosidosis, Adult Form
Hepatosplenomegaly, Anxiety, Cataract, Corneal opacity, Oligosacchariduria, Depression ORPHA:309288
Peroxisome Biogenesis Disorder 10B
Cataract, Nephrocalcinosis, Neurogenic bladder OMIM:617370
East Syndrome
Hypokalemia, Increased circulating renin level, Enuresis, Renal salt wasting, Renal sodium wastin... ORPHA:199343
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Reduced renal corticomedullary differentiation, Hypochloremia, Decreas... OMIM:602522
Adrenocortical Carcinoma
Hypokalemia, Anxiety, Increased urinary cortisol level, Panic attack, Abnormality of urine homeos... ORPHA:1501
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level OMIM:613677
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Midshaft hypospadias, Renal salt w... ORPHA:168558
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Midshaft hypospadias, Renal salt w... ORPHA:289548
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Abnormal cornea morphology, Renal tubular dysfunction, Renal Fanconi syn... ORPHA:411629
Transketolase Deficiency
Renal cyst, Self-injurious behavior, Cataract, Hepatomegaly, Increased level of ribose in urine, ... ORPHA:488618
Apparent Mineralocorticoid Excess
Hypokalemia, Nephrocalcinosis, Abnormal urine sodium concentration, Decreased circulating renin l... ORPHA:320
Cholera
Hypokalemia, Hyponatremia, Decreased urine output, Acute kidney injury, Abnormal blood ion concen... ORPHA:173
Colchicine Poisoning
Oliguria, Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphat... ORPHA:31824
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hypergalactosemia, C... ORPHA:247598
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Elevated circulating creatinine concentration, Hema... ORPHA:340
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Hypokalemia, Abnormal fear/anxiety-related behavior, Nephrolithiasis OMIM:219090
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae, Hypospadias OMIM:615877
Addison Disease
Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increased circulating renin level, Hype... ORPHA:85138
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hepatosplenomegaly, Hypercholesterolemia, Hyperkalemia, Renal salt wasting, Abnorma... ORPHA:275761
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypercalciur... ORPHA:3337
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Hypokalemia, Increased circulating renin level, Polyuria, Rena... OMIM:607364
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Bartter Syndrome Type 4
Hypokalemia, Nephrocalcinosis, Hyponatremia, Hypochloremia, Increased circulating renin level, Ac... ORPHA:89938
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Cataract, Renal hypoplasia, Aminoaciduria, Calcinosis OMIM:617913
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Proteinuria, Cataract, Lenticonus, Anterior lenticonus, Abnormal renal physiology, Nep... OMIM:308940
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Hypokalemia, Left ventricular hypertrophy ORPHA:251274
Helix Syndrome
Hypokalemia, Nephrolithiasis, Polyuria, Renal insufficiency, Hypermagnesemia, Hypocalciuria OMIM:617671
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Polyuria, Enuresis, Renal salt wasting, Renal sod... OMIM:612780
Infection-Related Hemolytic Uremic Syndrome
Oliguria, Hyponatremia, Decreased urine output, Acute kidney injury, Anuria, Hyperkalemia, Hypoca... ORPHA:544482
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Proximal Renal Tubular Acidosis
Glycosuria, Band keratopathy, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Bicarbonaturia, Hyp... ORPHA:47159
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Left ventricular hypertrophy, Decreased circulating renin level, Nephrolithiasis OMIM:615474
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Proteinuria, Hypercalc... ORPHA:1652
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Exercise-Induced Malignant Hyperthermia
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase c... ORPHA:466650
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Hereditary Fructose Intolerance
Cataract, Chronic kidney disease, Hepatomegaly, Hyperuricemia, Renal insufficiency, Hypermagnesem... ORPHA:469
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level, Increased urinary potassium ORPHA:231580
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Cystinosis, Nephropathic
Glycosuria, Hypokalemia, Proteinuria, Hypophosphatemic rickets, Polyuria, Corneal crystals, Micro... OMIM:219800
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Acute kidney injury, An... ORPHA:90038
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Nephrocalcinosis, Hypercalcemia, Hypochloremia, Increased circulating renin level, I... OMIM:601678
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hypokalemia, Proteinuria, Buphthalmos, Depression, Proximal renal tubular acidosis, ... ORPHA:534
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level, Increased urinary potassium ORPHA:231625
Andersen Cardiodysrhythmic Periodic Paralysis
Depression, Hypokalemia OMIM:170390
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Polyuria, Enuresis, Nocturia, Renal magnesium was... OMIM:263800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hypochloremia, Hyperkalemia, Renal salt wasting, Long penis, Elevated urinary epine... ORPHA:90794
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Nephrolithiasis ORPHA:369929
Mercury Poisoning
Hypokalemia, Acute kidney injury ORPHA:330021
Pearson Syndrome
Glycosuria, Hypokalemia, Lacticaciduria, Renal cyst, Proteinuria, Cataract, Hypocalcemia, Splenom... ORPHA:699
Pierson Syndrome
Diffuse mesangial sclerosis, Hypoproteinemia, Uveal ectropion, Hypoplasia of the ciliary body, Ne... OMIM:609049
Distal Renal Tubular Acidosis
Hypokalemia, Nephrocalcinosis, Hypermagnesiuria, Renal cyst, Nephrolithiasis, Hypocitraturia, Hyp... ORPHA:18
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration, Grade II vesicoureteral reflux, Proteinuria OMIM:619377
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hepatomegaly, Emotional lability, Hyperbilirubinemia, H... ORPHA:88673
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Increased serum prostaglandin E2, Hypochloremia, Increased circula... OMIM:241200
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Renal salt wasting, Long penis, Decreased circulating renin level, Increased urinary... ORPHA:90795
Rabson-Mendenhall Syndrome
Hypokalemia, Nephrocalcinosis, Increased C-peptide level, Long penis, Enlarged ovaries ORPHA:769
Gitelman Syndrome
Hypokalemia, Renal tubular acidosis, Renal Fanconi syndrome, Decreased urinary potassium, Protein... ORPHA:358
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Micropenis, Decreased circulating renin level, Increased urinary 11-deoxycorticoster... ORPHA:90793
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level, Long penis OMIM:202010
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatinine concentration, Hyperamylasemia, Aggressive behavior,... ORPHA:99826
Scorpion Envenomation
Glycosuria, Hypokalemia, Acute kidney injury, Increased circulating creatine kinase MB isoform, K... ORPHA:466677
Leprechaunism
Hypokalemia, Nephrocalcinosis, Enlarged kidney, Increased circulating renin level, Hypercalciuria... ORPHA:508
Vipoma
Hypokalemia, Hepatomegaly, Hypercalcemia ORPHA:97282
Nelson Syndrome
Hypokalemia, Increased urinary cortisol level ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Increased urinary cortisol level ORPHA:786
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Hypertriglyceri... OMIM:619573
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Vascular Ehlers-Danlos Syndrome
Hypokalemia, Bladder diverticulum, Abnormal pupil morphology, Renovascular hypertension, Cystocel... ORPHA:286
Trichohepatoenteric Syndrome 1
Renal cortical microcysts, Hypermethioninemia, Hepatomegaly, Abnormality of iron homeostasis, Gal... OMIM:222470
Syndromic Diarrhea
Renal hypoplasia, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Abnormality of iron ho... ORPHA:84064

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 Ttc37

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 Ttc37.

No publications found that use IMPC mice or data for Ttc37.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Ttc37em1(IMPC)Tcp Exon Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter