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Gene: Negr1 MGI:2444846

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Gene Summary

Name:
neuronal growth regulator 1
Synonyms:
neurotractin,  5330422G01Rik,  Ntra

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
hyperactivity Negr1tm1b(KOMP)Wtsi HOM Early adult 2.00×10-08
abnormal behavior Negr1tm1b(KOMP)Wtsi HOM Early adult 4.96×10-18
decreased thigmotaxis Negr1tm1b(KOMP)Wtsi HOM Early adult 4.95×10-18
decreased grip strength Negr1tm1b(KOMP)Wtsi HOM   Early adult 1.95×10-07
abnormal eye morphology Negr1tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased bone mineral content Negr1tm1b(KOMP)Wtsi HOM Early adult 4.75×10-05
decreased bone mineral density Negr1tm1b(KOMP)Wtsi HOM Early adult 4.60×10-05
abnormal heart morphology Negr1tm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged heart Negr1tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased brain weight Negr1tm1b(KOMP)Wtsi HOM   Early adult 2.83×10-08

Download data as:  TSV  XLS

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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
Adrenal gland  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary 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)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.37% (2 of 547)
aorta 0.0%
blood 0.0%
bone marrow 0.0%
brain 0.72% (4 of 556)
brainstem 0.36% (2 of 557)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 553)
cecum 5.67% (20 of 353)
cerebellum 0.55% (3 of 546)
cerebral cortex 0.36% (2 of 555)
chest bone Unavailable
colon 16.15% (21 of 130)
diaphragm 0.0%
duodenum 3.2% (4 of 125)
epididymis 14.49% (20 of 138)
esophagus 1.57% (6 of 383)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.78% (1 of 129)
heart 0.36% (2 of 559)
hindlimb 0.0%
hippocampus 0.55% (3 of 544)
hypothalamus 0.36% (2 of 550)
ileum 14.84% (19 of 128)
jejunum 9.45% (12 of 127)
kidney 4.83% (27 of 559)
large intestine 5.25% (29 of 552)
liver 0.0%
lower urinary tract 0.18% (1 of 552)
lung 0.36% (2 of 550)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.33% (1 of 306)
midbrain 0.0%
olfactory lobe 0.37% (2 of 545)
ovary 0.18% (1 of 560)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.19% (1 of 536)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.97% (11 of 558)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.4% (30 of 556)
spinal cord 0.54% (3 of 557)
spleen 0.55% (3 of 543)
stomach 3.78% (21 of 556)
stomach pyloric region 0.0%
striatum 0.55% (3 of 546)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.09% (6 of 550)
thymus 0.18% (1 of 551)
thyroid gland 3.1% (17 of 549)
tongue 4.03% (5 of 124)
trachea 0.54% (3 of 555)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 541)
vagina 0.0%
vas deferens 4.1% (15 of 366)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

44 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Negr1 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 Negr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Ethanolaminosis
Cardiomegaly OMIM:227150
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
8p23.1 deletion syndrome
Abnormal heart morphology, Hyperactivity, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Dense calvaria, Aggressive behavior, ... OMIM:252920
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis ORPHA:88643
Glycine Encephalopathy
Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Ck Syndrome
Hyperactivity, Aggressive behavior, Joint hypermobility, Abnormal cortical bone morphology, Irrit... OMIM:300831
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Beck-Fahrner Syndrome
Depression, Anxiety, Ventricular septal defect, Attention deficit hyperactivity disorder, Joint h... OMIM:618798
Landau-Kleffner Syndrome
Impulsivity, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity disorder, Aggres... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nail-biting, Attenti... OMIM:619827
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder OMIM:619927
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior OMIM:619467
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Thickened cortex of long bones, Cardiomegaly, Pericardial cons... OMIM:253250
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Neuraminidase Deficiency
Hepatomegaly, Splenomegaly, Epiphyseal stippling, Cardiomyopathy, Cardiomegaly OMIM:256550
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Osteoporosis, Pericardial effusi... OMIM:239850
Fragile X Syndrome
Mitral valve prolapse, Hyperactivity, Joint laxity, Self-biting OMIM:300624
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Osteoporosis, Cardiomyopathy, Cardiomegaly OMIM:235200
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior ORPHA:101039
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Osteopenia, Ventricular septal defect, Fractured radius, Hypertrophic cardio... OMIM:616897
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Symptomatic Form Of Hemochromatosis Type 1
Joint stiffness, Apathy, Hepatomegaly, Splenomegaly, Osteoporosis, Arthritis, Stiff interphalange... ORPHA:465508
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Dense calvaria, Asymmetric septal hyp... OMIM:252900
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Mitral valve prolapse, Joint laxity,... ORPHA:449291
16P12.1P12.3 Triplication Syndrome
Skin-picking, Atrial septal defect, Hyperactivity, Anxiety, Nail-biting, Attention deficit hypera... ORPHA:485405
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity, Joint hypermobility OMIM:300143
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Finger joint hypermobility, O... ORPHA:363705
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Contractures of the large joints, Abnormal atrioven... ORPHA:324410
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Dense calvaria, Asymmetric septal hyp... OMIM:252930
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Intellectual Developmental Disorder, Autosomal Dominant 45
Pulmonic stenosis, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Paroxysmal bursts of laughter ORPHA:391428
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Hyperactivity, Flexion contracture, Hyperextensibility of the finger joints... OMIM:309520
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Hepatomegaly, Cardiomegaly ORPHA:42
Mucopolysaccharidosis Type 3
Joint stiffness, Abnormal mitral valve morphology, Hepatomegaly, Hyperactivity, Flexion contractu... ORPHA:581
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Recurrent fractures, Bicuspid aortic valve, Atrial septal defect, Craniosynostosis, Osteopenia, L... OMIM:245600
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly ORPHA:1517
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Block ve... OMIM:306955
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Hepatomegaly, Inappropriate crying, Joint laxity, Arthrogryposis mul... OMIM:618143
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Stiff neck, Cardiomegaly, Overriding aorta OMIM:617022
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Cardiomegaly, Joint hypermobility ORPHA:2463
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Ankylosis, Cardiomegaly OMIM:208000
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Failure to thrive, Inability to walk, Microvesicular hepatic steatosis, Micronodular cirrhosis, H... ORPHA:404454
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Depression, Cardiomyopathy, Cardiomegaly OMIM:619259
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Gaucher Disease, Perinatal Lethal
Apathy, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita, Cardi... OMIM:608013
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly, Joint hypermobility OMIM:114620
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosi... OMIM:602782
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Limited knee flexion/extension, Limited elbow movement, Limited hi... ORPHA:268
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Enlarged kidney, Dilated cardiomyopathy, Elbow flexion contracture, Knee flexion co... OMIM:608836
Mucopolysaccharidosis Type 2
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Flexion contracture of dig... ORPHA:580
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... ORPHA:57777
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Craniosynostosis, Splenomegaly, Osteopenia, Camptodactyly, Pathologic fracture, Enl... OMIM:252500
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... OMIM:300967
Fucosidosis
Cardiomegaly, Hepatomegaly, Flexion contracture, Splenomegaly OMIM:230000
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Mogs-Cdg
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly ORPHA:79330
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Hyperactivity, Ventricular septal defect, Dextrocardia, Atten... OMIM:614294
Congenital Tracheomalacia
Atrial septal defect, Tracheomalacia, Single ventricle, Tetralogy of Fallot, Tracheobronchomalaci... ORPHA:95430
Bohring-Opitz Syndrome
Happy demeanor, Abnormal cardiac septum morphology, Bilateral wrist flexion contracture, Fixed el... ORPHA:97297
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly ORPHA:158687
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:614921
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly ORPHA:308552
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Irritability, Hepatosplenomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Flexion contracture, Left ventricular hypertrophy, Osteoporosis, Hypertrophic cardi... ORPHA:365
Abetalipoproteinemia
Osteopenia, Hepatomegaly, Cardiomegaly ORPHA:14
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Williams Syndrome
Abnormal cardiac septum morphology, Osteopenia, Radioulnar synostosis, Ventricular septal defect,... ORPHA:904
Choreoacanthocytosis
Apathy, Head-banging, Self-injurious behavior, Irritability, Hepatomegaly, Splenomegaly, Depressi... ORPHA:2388
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... ORPHA:3384
Aicardi-Goutières Syndrome
Multiple joint contractures, Irritability, Hepatosplenomegaly, Arthritis, Hypertrophic cardiomyop... ORPHA:51
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Ogden Syndrome
Bicuspid aortic valve, Secundum atrial septal defect, Irritability, Atrial septal defect, Enlarge... OMIM:300855
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Joint laxity, Hepatomegaly, Cardiomegaly ORPHA:96191
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... ORPHA:1677
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Liver Disease, Severe Congenital
Atrial septal defect, Hepatomegaly, Inappropriate crying, Splenomegaly, Ventricular septal defect... OMIM:619991
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... ORPHA:51608
Histiocytoid Cardiomyopathy
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:137675
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Hepatomegaly, Flexion contracture, Splenomegaly, Camptodactyly of ... OMIM:256040
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Osteopenia, Mitral valve calcification, Osteop... OMIM:182250
Yunis-Varon Syndrome
Atrial septal defect, Absent sternal ossification, Tetralogy of Fallot, Decreased skull ossificat... ORPHA:3472
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... ORPHA:75565
Beckwith-Wiedemann Syndrome
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Beckwith-Wiedemann Syndrome
Hepatomegaly, Splenomegaly, Enlarged kidney, Visceromegaly, Hypertrophic cardiomyopathy, Cardiome... ORPHA:116

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 Negr1

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 Negr1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The new obesity-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in Niemann-Pick disease Type C (NPC2)-mediated cholesterol trafficking. Biochemical and biophysical research communications (December 2016) Negr1tm1a(KOMP)Wtsi 27940359
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. PLoS genetics (February 2016) Negr1tm1a(KOMP)Wtsi PMC4739719

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MGI Allele Allele Type Produced
Negr1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Negr1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Negr1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Negr1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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