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Gene: Nemf MGI:1918305

Gene Summary

Name:

nuclear export mediator factor

Synonyms:

4933405E14Rik, 1500011I12Rik, Sdccag1

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	Allele	Zyg	Life Stage	P Value
increased heart weight	Nemf^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.46×10^-06
preweaning lethality, complete penetrance	Nemf^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal tail morphology	Nemf^{tm1b(EUCOMM)Hmgu}	HOM	E18.5	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

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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	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)

2 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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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.

Human diseases associated with Nemf (1 diseases)
Human diseases predicted to be associated with Nemf (87 diseases)

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	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

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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)	Nemf^{tm1b(EUCOMM)Hmgu}	PMC5503261

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MGI Allele	Allele Type	Produced
Nemf^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (post-Cre)	Mice
Nemf^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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Gene: Nemf MGI:1918305

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

Sleep Wake

X-ray

Eye Morphology

X-ray

X-ray

X-ray

Embryo LacZ

X-ray

Eye Morphology

Combined SHIRPA and Dysmorphology

Human diseases caused by Nemf mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 15.1 Data