Gene Summary

Name:
nuclear export mediator factor
Synonyms:
4933405E14Rik,  1500011I12Rik,  Sdccag1

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
increased heart weight Nemftm1b(EUCOMM)Hmgu HET   Early adult 7.46×10-06
preweaning lethality, complete penetrance Nemftm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal tail morphology Nemftm1b(EUCOMM)Hmgu HOM E18.5 0.00

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
Axial skeleton N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote 100% (1 of 1)
Oral cavity N/A homozygote Ambiguous
Rib pre-cartilage condensation N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skeleton N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
rib pre-cartilage condensation 1.79% (1 of 56)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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

32 Images

Sleep Wake

Wake state (bmp file)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Eye Morphology

Images Slit Lamp

2 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Peripheral axonal neuropathy, Ataxia OMIM:619099

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Toe walking, Distal amyotrophy, Peripheral axonal dege... OMIM:614436
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic ... OMIM:602433
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Gait disturbance, Axonal degeneration, Foot dorsiflexor weakness OMIM:616155
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Ethanolaminosis
Cardiomegaly OMIM:227150
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Proximal mu... OMIM:618138
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal amyotrophy, Falls, Failure to thrive, Axonal degeneration, Weakness o... OMIM:618811
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Hand muscle weakness, Difficulty walking, Gait disturb... OMIM:302800
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Gait disturbance, Degeneration of anterior horn cells, Decreased number of p... OMIM:604484
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers,... OMIM:615490
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Cerebral atrophy, Neurodegeneration, Ataxia, Bradykinesia, Cerebell... OMIM:615157
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Short stature, Skeletal muscle atrophy, Axonal degeneration, Brac... OMIM:162100
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Spinal muscular atrophy, Decreased nerve conduction velocity, Diaphragma... OMIM:604320
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Gait disturbance, Neurodegeneration, Toe walking, Bradykinesia, Distal amyotrophy, Moto... OMIM:615643
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Decreased number ... OMIM:208920
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Peripheral hypomyelination, ... OMIM:604168
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Optic atrophy OMIM:610951
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration, Ataxia, Dystonia OMIM:615889
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Proxima... OMIM:608030
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Absent pubertal growth spurt, Neurodegeneration, Cerebellar atrophy, Short stature, ... ORPHA:438134
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Peripheral axonal degeneration, Orthostatic hypotension, Decreased number of... OMIM:608720
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Axonal loss, Cerebral atrophy, Neurodegeneration, Ataxia, Decreased body weight, Cerebr... OMIM:617672
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Amyotrophic lateral sclerosis OMIM:615515
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebral atrophy, Neurodegeneration, Abnormal autonomic nervous system physiology, Brad... OMIM:300894
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Dystonia, Scapular winging, Temporal cortical atrophy, Frontal co... OMIM:167320
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Flexion contracture of finger, Gait disturbance, Camptodactyly, Ataxia, Abnormal sen... ORPHA:88628
Combined Oxidative Phosphorylation Deficiency 29
Dystonia, Global brain atrophy, Cerebellar atrophy, Optic neuropathy, Optic atrophy, Axonal degen... OMIM:616811
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Abnormal autonomic nervous s... ORPHA:478029
Spastic Paraplegia 35, Autosomal Recessive
Dystonia, Difficulty walking, Neurodegeneration, Ataxia, Cerebellar atrophy, Dysmetria, Atrophy/D... OMIM:612319
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Limb muscle weakness, Abnormal lower motor neuron morphol... OMIM:614373
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:613954
Spastic Paraplegia 79, Autosomal Recessive
Cerebral atrophy, Neurodegeneration, Flexion contracture, Ataxia, Cerebellar atrophy, Dysmetria, ... OMIM:615491
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper m... OMIM:205100
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Unsteady gait, Decreased nerve c... OMIM:256600
Krabbe Disease
Peripheral demyelination, Neurodegeneration, Diffuse cerebral atrophy, Decreased nerve conduction... OMIM:245200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619141
Adrenomyeloneuropathy
Leg muscle stiffness, Abnormality of peripheral nervous system electrophysiology, Atrophy/Degener... ORPHA:139399
Ataxia-Telangiectasia-Like Disorder 2
Neurodegeneration, Flexion contracture, Ataxia, Unsteady gait, Cerebellar atrophy, Short stature OMIM:615919
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Degeneration of anterior horn cells, Amyotrophi... OMIM:105400
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Scapular winging, Gait disturbance, Neurodegeneration, Abnormal lower motor neuron morp... OMIM:614298
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Gm2 Gangliosidosis, Ab Variant
Dystonia, Cerebral atrophy, Neurodegeneration, Postnatal growth retardation, Short stature ORPHA:309246
Combined Oxidative Phosphorylation Deficiency 24
Neurodegeneration, Cerebellar atrophy, Facial palsy, Skeletal muscle atrophy, Myopathy, Optic atr... OMIM:616239
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Hypomimic face, Neurodegeneration, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp,... OMIM:606159
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Axonal loss, Amyotrophic lateral sclerosis, Athetosis OMIM:300857
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Cerebrotendinous Xanthomatosis
Dystonia, Global brain atrophy, Gait disturbance, Tendon xanthomatosis, Ataxia, Cerebellar atroph... ORPHA:909
Amyotrophic Lateral Sclerosis
Neurodegeneration, Motor neuron atrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy ORPHA:803
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Difficulty walking, Gait disturbance, Neurodegeneration, Arm dystonia, Broad... ORPHA:79244
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Cerebral atrophy, Neurodegeneration, Bradykinesia, Cer... OMIM:610217
Hsd10 Disease, Infantile Type
Dystonia, Neurodegeneration, Cerebral atrophy, Loss of ability to walk, Frontotemporal cerebral a... ORPHA:391428
Adrenoleukodystrophy
Truncal ataxia, Limb ataxia, Neurodegeneration, Lower limb muscle weakness, Attention deficit hyp... OMIM:300100
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Cerebral atrophy, Neurodegeneration, Ataxia OMIM:618321
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Kanzaki Disease
Peripheral axonal neuropathy, Cerebral atrophy, Axonal degeneration OMIM:609242
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Neurodegeneration, Abnormal autonomic nervous system physiology, Ataxia,... OMIM:146500
Cerebral Visual Impairment
Neurodegeneration, Increased cup-to-disc ratio, Optic nerve hypoplasia, Central nervous system de... ORPHA:447788
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration, Ataxia, Optic atrophy OMIM:618476
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Gait ataxia, Gait disturbance, Cerebral atrophy, Neurodegeneration, Rhabdomyolysis, Ata... OMIM:616878
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Decreased muscle mass, Akinesia, Global brain atrophy, Gait disturbance, Neurodegenerat... OMIM:234200
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Peripheral axonal neuropathy, Ataxia OMIM:619099
Gm2-Gangliosidosis, Ab Variant
Dystonia, Cerebral atrophy, Neurodegeneration OMIM:272750
Mucopolysaccharidosis, Type Ii
Macroglossia, Mild short stature, Neurodegeneration, Papilledema, Flexion contracture, Severe sho... OMIM:309900
Chediak-Higashi Syndrome
Gait disturbance, Neurodegeneration, Ataxia, Decreased nerve conduction velocity, Foot dorsiflexo... OMIM:214500
Mucopolysaccharidosis, Type Vii
Short stature, Neurodegeneration, Flexion contracture, Postnatal growth retardation OMIM:253220
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Nijmegen Breakage Syndrome
Hyperactivity, Neurodegeneration, Short stature, Rhabdomyosarcoma, Intrauterine growth retardation OMIM:251260
Hurler Syndrome
Neurodegeneration, Flexion contracture, Short stature OMIM:607014
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Dextrocardia, ... OMIM:306955
Primrose Syndrome
Neurodegeneration, Flexion contracture, Truncal obesity, Distal amyotrophy, Short stature, Knee f... OMIM:259050

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 Nemf

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 Nemf.

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

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Nemftm1b(EUCOMM)Hmgu PMC5503261

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MGI Allele Allele Type Produced
Nemftm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice
Nemftm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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