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Gene: Csmd1 MGI:2137383

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Gene Summary

Name:
CUB and Sushi multiple domains 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating creatinine level Csmd1em1(IMPC)Wtsi HOM Early adult 2.01×10-07
abnormal thoracic cage shape Csmd1em1(IMPC)Wtsi HOM Early adult 3.37×10-05

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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 Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Csmd1em1(IMPC)Wtsi
HOM, Female, WTSI
Csmd1em1(IMPC)Wtsi
HOM, Female, WTSI
Csmd1em1(IMPC)Wtsi
HOM, Female, WTSI
Csmd1em1(IMPC)Wtsi
HOM, Female, WTSI
Csmd1em1(IMPC)Wtsi
HOM, Female, WTSI

View all 70 images

Csmd1em1(IMPC)Wtsi
abnormal placement of pupils, HOM, Male, WTSI

Human diseases caused by Csmd1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Csmd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Severe Primary Trimethylaminuria
Depression, Negative affectivity, Obsessive-compulsive trait, Emotional lability, Aggressive beha... ORPHA:468726
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Brunner Syndrome
Self-injurious behavior, Low frustration tolerance, Aggressive behavior, Kinetic tremor, Impulsivity OMIM:300615
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Obesity, Tremor... ORPHA:3077
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Edema, Familial Idiopathic, Prepubertal
Diabetes mellitus, Irritability OMIM:129840
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Emotional lability OMIM:309585
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Truncal obesity, Hy... ORPHA:293964
Stiff Person Spectrum Disorder
Falls, Difficulty walking, Emotional lability, Exaggerated startle response, Diabetes mellitus ORPHA:3198
Leptin Receptor Deficiency
Obesity, Abnormal eating behavior, Emotional lability, Aggressive behavior, Polyphagia, Diabetes ... OMIM:614963
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Adiposis Dolorosa
Obesity, Depression OMIM:103200
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity ORPHA:71529
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Tremor, Increased body weight,... ORPHA:276608
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Obesity And Hypopigmentation
Overgrowth, Obesity, Polyphagia, Hyperinsulinemia OMIM:620195
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Intellectual Developmental Disorder, X-Linked 108
Difficulty walking, Attention deficit hyperactivity disorder, Overweight, Broad-based gait OMIM:301024
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response ORPHA:309246
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276580
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus OMIM:608320
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Depression ORPHA:276630
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Large for gestational age, Aggressive behavior, Ataxia, Agitation OMIM:616116
11P15.4 Microduplication Syndrome
Aggressive behavior, Obesity ORPHA:300305
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Increased body weight, Attention deficit hyperactivity disorder, Diabe... OMIM:274300
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Hyperinsulinemia, Polyphagia, Childhood-onset truncal obesity, Hypogl... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Hyperinsulinemia, Polyphagia, Childhood-onset truncal obesity, Hypogl... ORPHA:71526
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Leukodystrophy, Hypomyelinating, 13
Ataxia, Failure to thrive, Exaggerated startle response, Irritability OMIM:616881
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Hyperglycemia, Depression, Abdominal obesity OMIM:615954
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Type I diabetes mellitus, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276575
Narcolepsy Type 1
Depression, Obesity, Restless legs, Attention deficit hyperactivity disorder, Restlessness ORPHA:2073
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Shuffling gait, Resting tremor, Bruxism, Obesity, Emotional lability, Tremor, Ataxia, Spastic gai... OMIM:300055
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Hand tremor, Increased body weight, Attention deficit hyperactivity disorder, Gait disturbance, I... ORPHA:589905
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Mehmo Syndrome
Obesity, Diabetes mellitus, Agitation ORPHA:85282
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Depression, Diabetes mellitus, Emotional lability OMIM:615830
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia, Reactive hypoglycemi... ORPHA:276556
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Tremor, Self-mutilation, Gait disturbance, Overweight, Motor stereotypy ORPHA:457240
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Depression, Exaggerated startle response OMIM:620114
Stiff-Person Syndrome
Opisthotonus, Depression, Diabetes mellitus, Exaggerated startle response OMIM:184850
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Idiopathic Intracranial Hypertension
Depression, Obesity, Abnormal emotion ORPHA:238624
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Hyperactivity OMIM:301013
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Morgagni-Stewart-Morel Syndrome
Obesity, Depression, Diabetes mellitus, Action tremor ORPHA:77296
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti... OMIM:608643
Insulinoma
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Reactive hypoglycemia, Tremor... ORPHA:97279
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Glucose intolerance, Emotional lability, Abdominal obesi... OMIM:219090
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Polyphagia, Obesity, Hyperinsulinemia OMIM:617885
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, Tremor, Increa... ORPHA:263455
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Aggressive behavior ORPHA:261229
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Failure to thrive, Exaggerated startle response, Irritability OMIM:617864
48,Xxyy Syndrome
Depression, Tall stature, Obesity, Type II diabetes mellitus, Tremor, Attention deficit hyperacti... ORPHA:10
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Obesity, Hyperinsulinemia, Emotional lability, Polyphagia ORPHA:179494
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
Temple Syndrome
Recurrent hypoglycemia, Obesity, Type II diabetes mellitus, Polyphagia, Small for gestational age ORPHA:254516
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Obesity, Large for gestational ag... ORPHA:552
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Obesity, Low frustration tolerance, Self-mutilation, Stereotypical hand... ORPHA:163681
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Wilson Disease
Depression, Failure to thrive, Difficulty walking, Increased body weight, Aggressive behavior, We... ORPHA:905
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder OMIM:620439
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation ORPHA:100924
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapp... ORPHA:411511
Wagro Syndrome
Obesity, Emotional lability, Low frustration tolerance, Polyphagia, Aggressive behavior, Compulsi... OMIM:612469
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapp... ORPHA:98794
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Obesity, Action tremor, Dysmetria, Gait disturbance, Unsteady gait ORPHA:93952
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Agitation, Irritability, Hyperactivity, Exaggerated startle response... OMIM:620423
Smith-Magenis Syndrome
Head-banging, Onychotillomania, Self-mutilation, Increased body weight, Hyperactivity, Self huggi... OMIM:182290
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Obesity, Ataxia ORPHA:459033
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Broad-based gait, Increased body mass index OMIM:614450
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Diabetes mellitus, Hyperactivity OMIM:614613
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
48,Xxxy Syndrome
Tall stature, Obesity, Type II diabetes mellitus, Tremor, Irritability, Attention deficit hyperac... ORPHA:96263
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Obesity, Recurrent hand flapping, Tremor, Aggressive behavior, Attention deficit hy... OMIM:619680
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response, Agitation OMIM:618056
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Tay-Sachs Disease
Depression, Laryngeal dystonia, Inability to walk, Tremor, Dysmetria, Gait disturbance, Dysphagia... ORPHA:845
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Adrenocortical Carcinoma
Increased body weight, Weight loss, Diabetes mellitus, Irritability ORPHA:1501
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Aggressive behavior, Self-injurious behavior OMIM:300860
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Depression, Glucose intolerance, Emotional lability, Increased body weight, Abdominal obesity, Mania ORPHA:189427
Blue Diaper Syndrome
Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia ORPHA:94086
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Developmental And Epileptic Encephalopathy 8
Overgrowth, Exaggerated startle response OMIM:300607
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Obesity, Insulin-resistant diabetes mellitus, Hyperinsulinemia ORPHA:66628
Angelman Syndrome
Broad-based gait, Obesity, Progressive gait ataxia, Hyperactivity, Limb tremor, Ataxia, Paroxysma... OMIM:105830
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration OMIM:618885
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Tyrosinosis
Hypertyrosinemia OMIM:276800
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Polyphagia, Obesity OMIM:609734
Adiposis Dolorosa
Obesity, Depression ORPHA:36397
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Sotos Syndrome
Tall stature, Glucose intolerance, Increased body weight, Aggressive behavior, Attention deficit ... OMIM:117550
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Overweight ORPHA:99832
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Obesity, Emotional lability, Gait disturbance, Ataxia, Overweight, Dysphagia ORPHA:2822
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Decreased circulating apolipoprotein A-I concentra... ORPHA:85450
Juvenile Nephropathic Cystinosis
Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ... ORPHA:411634
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Asparagine Synthetase Deficiency
Tremor, Failure to thrive, Exaggerated startle response, Irritability OMIM:615574
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Type II diabetes mellitus, Increased body weight, Po... ORPHA:398069
Ataxia-Oculomotor Apraxia 4
Dystonia, Obesity, Ataxia OMIM:616267
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level OMIM:301110
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Dystonia, Ataxia, Exaggerated startle response ORPHA:438216
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia, Difficulty walking, Gait ataxia, Ataxia, Exaggerated startle response OMIM:620451
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response, Irritability OMIM:618367
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Glycosuria, Hypoglycemia OMIM:616026
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Failure to thrive, Impaired oropharyngeal swallow response, Exaggerated startle response ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Aggressive behavior ORPHA:293948
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Failure to thrive, Exaggerated startle response OMIM:617527
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Cushing Disease
Depression, Emotional lability, Increased body weight, Truncal obesity, Abdominal obesity, Diabet... ORPHA:96253
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Sandhoff Disease
Ataxia, Exaggerated startle response OMIM:268800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353281
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia ORPHA:340
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight, Ketotic hypoglycemia, Fasting hypoglycemia, Recurrent hypoglycemia ORPHA:79240
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Hypoglycemia, Failure to thrive, Fasting hypoglycemia ORPHA:264580
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:449395
Cushing Syndrome Due To Ectopic Acth Secretion
Depression, Anorexia, Emotional lability, Increased body weight, Weight loss, Truncal obesity, Ab... ORPHA:99889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353277
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Stereotypical hand wringing, Exaggerated startle response, D... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response OMIM:619522
Hellp Syndrome
Increased body weight ORPHA:244242
Carney Complex
Increased body weight, Tall stature, Abdominal obesity ORPHA:1359

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 Csmd1

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 Csmd1.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Csmd1em1(IMPC)Wtsi PMC7263671
Functional analysis of candidate genes from genome-wide association studies of hearing. Hearing research (January 2020) Csmd1tm1e(EUCOMM)Hmgu PMC6996162
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Csmd1em1(IMPC)Wtsi PMC7338221
Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility. Nature communications (October 2019) Csmd1tm2a(EUCOMM)Wtsi PMC6789153
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Csmd1em2Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Csmd1em2Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Csmd1em1Wtsi PMC5827107

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Csmd1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Csmd1em1(IMPC)Wtsi Deletion Mice
Csmd1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Csmd1tm366513(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Csmd1tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Csmd1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Csmd1tm355748(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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