Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nardilysin convertase
Synonyms:
Nrd1,  NRD-C

IMPC Data Collections

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

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.

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 Nrdc 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 Nrdc by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Hand tremor ORPHA:401840
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Hand tremor, Agenesis of corpus callosum ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Limb tremor, Agenesis of corpus callosum ORPHA:401820
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment ORPHA:324422
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly, Partial agenesis of the corpus callosum, Abnormal myelination, Agenesis of corp... ORPHA:85179
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Hand tremor, Ataxia, Dementia, Dystonia OMIM:615889
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait ataxia, Severe demyelination of the white matter ORPHA:488635
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Hand tremor, Limb ataxia, Demyelinating peripheral neuropathy, Atax... OMIM:607596
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Ventriculomegaly, Leukodystrophy, Colpocephaly, Delayed CNS myelination, Hydroceph... OMIM:616034
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Paresthesia, Hydrocephalus, Ataxia ORPHA:73256
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormal myelination, Abnormality of peripheral nerve conduction ORPHA:431329
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Memory impairment, Lateral ventricle dilatation, Abnormal upper motor neuron morphology, Peripher... OMIM:221770
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Neonatal death OMIM:614870
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Short attention span, Attention deficit hyperactivity disorder, Del... OMIM:617854
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Hand tremor ORPHA:401835
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Optic atrophy, Hydrocephalus ORPHA:2185
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Impaired vibration sensation in the lower limbs ORPHA:401815
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Dystonia, Delayed CNS myelination, Lateral ventricle dilatation OMIM:617668
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Lateral ventricle dilatation, Tremor ORPHA:306669
Cach Syndrome
Optic atrophy, Lateral ventricle dilatation, Limb ataxia, Dysmetria, Cognitive impairment, Progre... ORPHA:135
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination, Hydrocephalus ORPHA:352682
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Polymicrogyria Due To Tubb2B Mutation
Attention deficit hyperactivity disorder, Lateral ventricle dilatation, Cognitive impairment, Age... ORPHA:300573
Glutaric Acidemia I
Lateral ventricle dilatation, Symmetrical progressive peripheral demyelination, Opisthotonus, Hyd... OMIM:231670
Microphthalmia-Brain Atrophy Syndrome
Diffuse demyelination of the cerebral white matter, Lateral ventricle dilatation ORPHA:77299
Alg2-Cdg
Cerebral hypomyelination, Lateral ventricle dilatation ORPHA:79326
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Delayed CNS myelination OMIM:618731
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Ventriculomegaly, Colpocephaly, Delayed CNS myelination, Hydrocephalus, Demyelinat... OMIM:619833
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Optic atrophy, Tremor, Attention deficit hyperactivity disorder, Ataxia, Ab... ORPHA:442835
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Delayed CNS myelination, Lateral ventricle dilatation OMIM:619517
Glutamine Deficiency, Congenital
Subependymal cysts, CNS hypomyelination, Lateral ventricle dilatation, Neonatal death OMIM:610015
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Dystonia, Ataxia, Pa... ORPHA:79243
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Giant Axonal Neuropathy 1, Autosomal Recessive
Facial palsy, Lateral ventricle dilatation, Distal sensory impairment, Decreased number of periph... OMIM:256850
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Resting tremor ORPHA:363654
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corp... OMIM:618736
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Delayed myelination, Lateral ventricle dilatation ORPHA:284417
Wars2-Related Combined Oxidative Phosphorylation Defect
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Limb dystonia, Tremor, ... ORPHA:572798
Bilateral Generalized Polymicrogyria
Dystonia, Oculogyric crisis, Lateral ventricle dilatation ORPHA:208447
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Malan Overgrowth Syndrome
Optic disc pallor, Ventriculomegaly, Lateral ventricle dilatation, Episodic ataxia ORPHA:420179
X-Linked Intellectual Disability, Wilson Type
Delayed myelination, Lateral ventricle dilatation ORPHA:85290
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Delayed CNS myelination, Lateral ventricle dilatation OMIM:600721
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Dystonia, Delayed CNS myelination, Lateral ventricle dilatation OMIM:614105
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Ventriculomegaly, Agenesis of corpus callosum, Opisthotonus, Colpocephaly OMIM:620352
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia OMIM:608629
Holoprosencephaly 5
Hydrocephalus, Lateral ventricle dilatation OMIM:609637
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Lateral ventricle dilatation, Optic nerve dysplasia, Delayed CNS myelina... OMIM:617296
Pontocerebellar Hypoplasia, Type 13
Gait ataxia, Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Adams-Oliver Syndrome 2
Hydrocephalus, Optic atrophy, Lateral ventricle dilatation OMIM:614219
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Commun... OMIM:615219
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Short attention span, Spas... ORPHA:300570
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Craniosynostosis 6
Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:616602
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Delayed myelination, Lateral ventricle dilatation, Cognitive impairment ORPHA:2148
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:620156
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Memory impairment, Lateral ventricle dilatation, Short attention span, Orth... ORPHA:2822
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Progressive language deterioration, Memory impairment, Lateral ventricle dilatation, Frontotempor... OMIM:607485
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Delayed CNS myelination, Lateral ventricle dilatation OMIM:620075
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination, Titubation, Ataxia ORPHA:280210
Fanconi Anemia, Complementation Group I
Colpocephaly, Optic nerve hypoplasia, Agenesis of corpus callosum OMIM:609053
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Leg dystonia, Lateral ventricle dilatation, Decreased nerve conduction velocity ORPHA:565624
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Short attention span, Agenesis of corpus callosum, Diminished abili... OMIM:612863
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination ORPHA:289266
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Intention tremor OMIM:619995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydroceph... OMIM:613154
Cog5-Cdg
Truncal ataxia, Delayed myelination, Lateral ventricle dilatation ORPHA:263487
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Opisthotonus, Limb dystonia, Lateral ventricle dilatation OMIM:619847
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Tongue tremor, Somatic sensory dysfunction, Mixed demyelinating and... ORPHA:466768
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Colpocephaly, Delayed CNS myelination, Agenesis of corpus callosum OMIM:617260
Gabriele-De Vries Syndrome
Lateral ventricle dilatation, Tremor, Attention deficit hyperactivity disorder, Delayed CNS myeli... OMIM:617557
Spondyloenchondrodysplasia
Ventriculomegaly, Chorea, Abnormal lateral ventricle morphology ORPHA:1855
Halperin-Birk Syndrome
Ventriculomegaly, Colpocephaly, Optic atrophy, Agenesis of corpus callosum OMIM:618651
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Short attention span, Tremor, Ataxia OMIM:619229
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Lateral ventricle dilatation, Leukodystrophy, Short attention span, Atte... OMIM:619575
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
CNS hypomyelination, Lateral ventricle dilatation, Cerebral hypomyelination, Delayed CNS myelinat... OMIM:618367
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:619244
Aicardi-Goutieres Syndrome 9
Optic atrophy, Dystonia, Delayed CNS myelination, Lateral ventricle dilatation OMIM:619487
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly, Optic nerve hypoplasia ORPHA:261250
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Abnormal optic disc morp... ORPHA:397715
Choreoacanthocytosis
Blepharospasm, Impaired vibratory sensation, Mental deterioration, Resting tremor, Lateral ventri... ORPHA:2388
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:620113
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Colpocephaly, Hydrocephalus, Abnormal CNS ... OMIM:620371
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Attention deficit hyperactivity disorder, Dilated third ventricle, La... ORPHA:544488
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation ORPHA:488627
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly, Optic disc pallor, Dystonia, Ataxia OMIM:620083
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic atrophy, Optic nerve dysplasia, Agenesis of corpus callosum, Colpocephaly, Athetosis OMIM:614866
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Ventriculomegaly, Chorea, Action tremor, Lingual dystonia, Abnormal myelination, O... ORPHA:404454
Aicardi Syndrome
Optic atrophy, Dilated third ventricle, Lateral ventricle dilatation, Optic disc coloboma, Delaye... OMIM:304050
Monosomy 18Q
Hydrocephalus, Abnormal myelination, Choreoathetosis ORPHA:1600
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Action tremor, Truncal ataxia, Dystonia, Abnormal myelination, Dysdiadochokinesis ORPHA:309854
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation OMIM:612301
Cockayne Syndrome Type 3
Abnormality of peripheral nerve conduction, Cognitive impairment, Demyelinating peripheral neurop... ORPHA:90324
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Colpocephaly OMIM:618460
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Delayed myelination ORPHA:477993
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Attention deficit hyperactivity disorder, Agenesis of c... OMIM:618820
Holoprosencephaly 13, X-Linked
Colpocephaly, Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpus callosum OMIM:301043
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:309801
6Q Terminal Deletion Syndrome
Colpocephaly, Gait ataxia, Dysmetria ORPHA:75857
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Lateral ventricle dilatation, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Stillbirt... OMIM:210710
Neurocardiofaciodigital Syndrome
Optic disc pallor, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Colpocephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Dand... OMIM:270400
Keppen-Lubinsky Syndrome
Opisthotonus, Lateral ventricle dilatation OMIM:614098
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Delayed myelination, Social and occupational deterioration ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Delayed myelination, Social and occupational deterioration ORPHA:353277
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Dilated fourth ventricle, Partial agenesis of the corpus callosum, Abnor... ORPHA:434179
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Degcags Syndrome
Ventriculomegaly, Abnormal myelination, Agenesis of corpus callosum OMIM:619488
Congenital Disorder Of Glycosylation, Type Iim
Delayed CNS myelination, Lateral ventricle dilatation OMIM:300896
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170

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 Nrdc

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 Nrdc.

No publications found that use IMPC mice or data for Nrdc.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nrdctm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nrdctm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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