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Gene: Nipsnap1 MGI:1278344

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Gene Summary

Name:
nipsnap homolog 1
Synonyms:
N/A

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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 mean corpuscular volume Nipsnap1tm1a(EUCOMM)Wtsi HOM Early adult 1.70×10-06
abnormal locomotor activation Nipsnap1tm1a(EUCOMM)Wtsi HOM Early adult 1.33×10-05
increased startle reflex Nipsnap1tm1a(EUCOMM)Wtsi HOM Early adult 1.03×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

Phenotype associated images not available

Human diseases caused by Nipsnap1 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 Nipsnap1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Pudendal Neuralgia
Scrotal pain, Paroxysmal rectal pain, Neuralgia, Allodynia, Vulvodynia, Anal pain, Pelvic pain ORPHA:60039
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Trigeminal Neuralgia
Trigeminal neuralgia, Ocular pain, Mandibular pain, Allodynia ORPHA:221091
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Parkinson Disease 17
Akinesia, Resting tremor, Tremor OMIM:614203
Complex Regional Pain Syndrome
Limb pain, Allodynia ORPHA:83452
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal pain, Back pain, Allodynia ORPHA:51890
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia OMIM:613839
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Dystonia, Spastic ataxia, Increased mean corpuscular volume OMIM:277410
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98773
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Resting tremor, Inability to walk, Akinesia, Gait a... ORPHA:391411
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Dystonia OMIM:619911
Spinal Cord Injury
Allodynia ORPHA:90058
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Benign Schwannoma
Pain, Allodynia ORPHA:252164
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... OMIM:615234
Corticobasal Syndrome
Akinesia, Limb dystonia, Tremor, Gait disturbance, Dystonia ORPHA:454887
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Spinocerebellar Ataxia 21
Postural tremor, Limb ataxia, Gait ataxia, Akinesia, Ataxia, Dystonia, Intention tremor, Progress... OMIM:607454
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Abdominal pain, Abdominal cramps, Allodynia OMIM:603041
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, At... OMIM:127550
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Dysdiadochokinesis, Resting tremor, Akinesia, Gait ataxia, Ataxia, Abnormal vesti... ORPHA:247234
Aceruloplasminemia
Blepharospasm, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Tremor, Craniofacial dystonia, Tortico... ORPHA:48818
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Broad-based gait, Decreased mean corpuscular volume OMIM:616943
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis OMIM:611590
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Akinesia, Tremor OMIM:300894
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Akinesia, Gait imbalance, Axial dystonia, Tremor, Dystonia ORPHA:240071
Perry Syndrome
Short stepped shuffling gait, Dystonia, Akinesia, Tremor OMIM:168605
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... ORPHA:811
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Kufor-Rakeb Syndrome
Akinesia, Tremor, Gait disturbance, Torticollis, Ataxia, Dystonia OMIM:606693
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec... ORPHA:300298
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Limb dystonia, Resting tremor OMIM:616840
Manganese Poisoning
Dystonia, Gait disturbance, Akinesia, Postural tremor ORPHA:306682
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Exaggerated startle response ORPHA:3198
Congenital Myopathy 9A
Akinesia OMIM:618822
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Postencephalitic Parkinsonism
Akinesia, Tremor by anatomical site, Resting tremor, Oculogyric crisis ORPHA:97349
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Akinesia, Choreoathetosis OMIM:618249
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Anemia, Akinesia, Hypochromic microcytic anemia OMIM:619147
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Akinesia, Splenomegaly, Opisthotonus, Thrombocytopenia, Anemia OMIM:608013
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Hand tremor, Akinesia, Acanthocytosis, Poikilocytosis, Dystonia OMIM:618947
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Supranuclear Palsy, Progressive, 2
Falls, Postural tremor, Gait imbalance, Retrocollis, Axial dystonia, Akinesia OMIM:609454
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Dystonia, Resting tremor, Akinesia ORPHA:411602
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response OMIM:618056
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Axial dystonia, Tremor OMIM:601104
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Akinesia, Acanthocytosis, Tremor, Gait disturbance, Ataxia, Dystonia, Choreoathetosis OMIM:234200
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Congenital Myopathy 12
Akinesia OMIM:612540
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Leukodystrophy, Hypomyelinating, 13
Ataxia, Exaggerated startle response OMIM:616881
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Castleman Disease
Anemia, Decreased mean corpuscular volume, Thrombocytopenia ORPHA:160
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Dystonia, Ataxia, Exaggerated startle response ORPHA:438216
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response OMIM:617864
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Dpagt1-Cdg
Inability to walk, Akinesia, Tremor, Ataxia, Anemia ORPHA:86309
Tay-Sachs Disease
Laryngeal dystonia, Inability to walk, Tremor, Dysmetria, Gait disturbance, Exaggerated startle r... ORPHA:845
Sandhoff Disease
Ataxia, Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Gait ataxia, Ataxia, Exaggerated startle response OMIM:620451
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Thrombocytopenia, Exaggerated startle response OMIM:620423
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
African Trypanosomiasis
Difficulty walking, Hepatosplenomegaly, Akinesia, Splenomegaly, Tremor, Gait disturbance, Choreoa... ORPHA:3385
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Exaggerated startle response, Anemia, Dystonia ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Nipsnap1

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 Nipsnap1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Nipsnap1-A regulatory factor required for long-term maintenance of non-shivering thermogenesis. Molecular metabolism (July 2023) Nipsnap1tm1c(EUCOMM)Wtsi Nipsnap1tm1a(EUCOMM)Wtsi 37423391

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MGI Allele Allele Type Produced
Nipsnap1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nipsnap1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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