Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
neurochondrin
Synonyms:
neurochondrin-1,  neurochondrin-2,  norbin

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 Ncdn 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 Ncdn by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Infantile Epileptic Spasms
Epicanthus OMIM:619373
Autosomal Recessive Non-Syndromic Intellectual Disability
ORPHA:88616

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Upington Disease
Arthralgia of the hip, Broad femoral neck, Multiple enchondromatosis, Flattened femoral head OMIM:191520
Metachondromatosis
Abnormality of the metaphysis, Multiple enchondromatosis, Abnormality of epiphysis morphology ORPHA:2499
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Osteopoikilosis And Dacryocystitis
Dacryocystitis OMIM:166705
Genochondromatosis Type 1
Multiple enchondromatosis, Abnormality of the knee ORPHA:85197
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland aplasia, Absent lacrimal punctum, Lacrimal gland hypoplasia OMIM:180920
Metachondromatosis
Bowing of the long bones, Multiple enchondromatosis, Abnormal joint morphology OMIM:156250
Enchondromatosis, Multiple, Ollier Type
Abnormality of long bone morphology, Multiple enchondromatosis OMIM:166000
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Legg-Calvé-Perthes Disease
Joint dislocation, Cartilage destruction ORPHA:2380
Pterygium Of Conjunctiva And Cornea
Abnormal conjunctiva morphology, Pterygium OMIM:178000
Isolated Congenital Alacrima
Lacrimal punctal atresia, Ptosis, Distichiasis, Lacrimal gland hypoplasia, Conjunctivitis ORPHA:91416
Lacrimal Duct Defect
Dacryocystocele, Lacrimal duct atresia, Conjunctivitis, Dacryocystitis OMIM:149700
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis, Synophrys, Epicanthus, Premature ova... ORPHA:126
Multiple Epiphyseal Dysplasia Type 5
Genu varum, Premature osteoarthritis, Intervertebral disc degeneration, Delayed proximal femoral ... ORPHA:93311
Sillence Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal proximal phalanx morphology... ORPHA:3168
Alacrima, Congenital, Autosomal Dominant
Lacrimal punctal atresia, Lacrimal gland hypoplasia OMIM:103420
Igg4-Related Ophthalmic Disease
Abnormality of the extraocular muscles, Abnormality of the anterior pituitary, Orchitis, Enlarged... ORPHA:449563
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Abnormal lacrimal duct morphology, Lacrimal gland hypoplasia, Po... ORPHA:572333
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Lacrimal duct atresia ORPHA:139450
Hypertrichosis Cubiti
Thick eyebrow, Abnormal eyelash morphology, Ptosis, Downslanted palpebral fissures, Abnormal eyel... ORPHA:2220
Dacryocystitis-Osteopoikilosis Syndrome
Dacryocystitis ORPHA:1562
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal lacrimal duct morphology, Abnormal salivary gland morphology, Abnormality of the extraoc... ORPHA:79078
Familial Calcium Pyrophosphate Deposition
Osteoarthritis, Joint dislocation, Chondrocalcinosis, Calcification of cartilage, Joint swelling,... ORPHA:1416
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
Nasolacrimal duct obstruction OMIM:614187
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlar... ORPHA:449432
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Conjunctival dermolipoma OMIM:180550
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Scoliosis, Arthralgia of the hip, Flattened femoral head, Abn... ORPHA:93284
Ollier Disease
Abnormality of the metaphysis, Abnormal cartilage morphology, Multiple enchondromatosis, Platyspo... ORPHA:296
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Absent lacrimal punctum, Lower eyelid coloboma, Telecanthus, Conjunctiv... OMIM:167730
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Joint dislocation, Multiple joint dislocation OMIM:245650
Waardenburg Syndrome, Type 4C
White eyebrow, Lacrimal gland hypoplasia, Cryptorchidism, White eyelashes OMIM:613266
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, Upslanted palpebral fissure, Hypoplastic lacrimal duct, Absent lacrimal punctum OMIM:273390
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Abnormality of pelvic girdle bone morphology, Short g... OMIM:256050
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Hypoplastic vertebral bodies, Platyspondyly, Flared metap... ORPHA:2347
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Ectropion of lower eyelids, Nasolacrimal duct obstruction, Dac... ORPHA:141083
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Lacrimal duct stenosis OMIM:609057
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged joints, Abnormal cartilage collagen, Platyspondyly, Flared meta... OMIM:156550
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Intervertebral disc degeneration, Knee osteoarthritis, Arachnodactyly, Scoliosis OMIM:619656
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Nasolacrimal duct obstruction ORPHA:440727
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology OMIM:181000
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the lacrimal punctum, Hypoplastic lacrimal duct, Absent lacrimal punctum, Absence o... OMIM:149730
Alkaptonuria
Limitation of knee mobility, Kyphosis, Intervertebral disc degeneration, Vertebral fusion, Arthro... OMIM:203500
Sarcoidosis
Parotitis, Abnormal conjunctiva morphology, Enlarged lacrimal glands, Dacryocystitis, Keratoconju... ORPHA:797
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Absent eyelashes, Thick eyebrow, Ptosis, Highly arched eyebrow, Telecanthus ORPHA:228396
Lacrimoauriculodentodigital Syndrome
Abnormal lacrimal duct morphology, Hypoplasia of the lacrimal punctum, Abnormal salivary gland mo... ORPHA:2363
Split hand/foot malformation 1 (SHFM1)
Lacrimal duct aplasia DECIPHER:46
Craniofacial-Deafness-Hand Syndrome
Downslanted palpebral fissures, Blepharophimosis, Lacrimal duct atresia ORPHA:1529
Manitoba Oculotrichoanal Syndrome
Nasolacrimal duct obstruction, Eyelid coloboma OMIM:248450
Branchiootic Syndrome 3
Lacrimal duct stenosis OMIM:608389
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged joints, Short long bone, Abnormality of the epiphysis of the fe... ORPHA:485
Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, And Lacrimal Duct Obstruction
Lacrimal duct stenosis OMIM:601351
Oculotrichoanal Syndrome
Upper eyelid coloboma, Cryptophthalmos, Nasolacrimal duct obstruction ORPHA:2717
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Lacrimal duct stenosis, Sparse eyebrow, Ptosis, Downslanted palpebral fissures ORPHA:73246
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Nasolacrimal duct obstruction OMIM:273400
Juvenile Idiopathic Arthritis
Joint dislocation, Abnormal sacroiliac joint morphology, Abnormal joint morphology, Cartilage des... ORPHA:92
Multiple Osteochondromas
Limitation of knee mobility, Abnormal pelvis bone morphology, Deformed radius, Abnormal morpholog... ORPHA:321
Atopic Keratoconjunctivitis
Blepharitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Abnormal eyelid morphology ORPHA:163934
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormal eyelash morphology, Sparse eyebrow, Lacrimal punctal atresia, Telecanthus, Conjunctival ... ORPHA:2399
Kid Syndrome
Posterior blepharitis, Sparse eyebrow, Keratoconjunctivitis sicca, Sparse eyelashes, Aplastic/hyp... ORPHA:477
Rubinstein-Taybi Syndrome
Cryptorchidism, Nasolacrimal duct obstruction, Ptosis, Highly arched eyebrow, Downslanted palpebr... ORPHA:783
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Epiphyseal stippling, Abnormal cartilage matrix, Short distal phalanx of finger ORPHA:86822
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Nasolacrimal duct obstruction ORPHA:3218
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Lacrimal duct stenosis, Periorbital dermoid cyst, Conjunctivitis OMIM:615560
Limb-Mammary Syndrome
Hypoplastic nipples, Lacrimal duct atresia OMIM:603543
Poikiloderma With Neutropenia
Blepharitis, Sparse lateral eyebrow, Sparse eyebrow, Nasolacrimal duct obstruction, Conjunctivitis OMIM:604173
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Pseudohypoparathyroidism, Dacryocystitis ORPHA:464288
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Long eyelashes, Cryptorchidism, Thick eyebrow, Nasolacrimal duct obstruction, Ptos... OMIM:610759
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Blepharitis, Absent eyelashes, Supernumerary nipple, Lacrimal duct atresia, Sparse eyelashes, Con... OMIM:106260
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Epicanthus, Ptosis, Lacrimal duct stenosis ORPHA:457193
Roifman-Chitayat Syndrome
Lacrimal duct stenosis OMIM:613328
Beck-Fahrner Syndrome
Lacrimal duct stenosis, Ptosis OMIM:618798
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Thin eyebrow, Abnormal eyebrow morphology, Abnormal eyelid morphology, Abnormal nasolacrimal syst... ORPHA:3220
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse eyelashes, Pterygium, Nasolacrimal duct obstruction OMIM:224230
Noonan Syndrome 14
Cryptorchidism, Lacrimal duct stenosis, Sparse eyebrow, Downslanted palpebral fissures, Epicanthus OMIM:619745
Moderate Hemophilia A
Synovitis, Joint hemorrhage, Cartilage destruction, Arthropathy, Joint swelling ORPHA:169805
Branchio-Oculo-Facial Syndrome
Upslanted palpebral fissure, Nasolacrimal duct obstruction, Ptosis ORPHA:1297
Treacher Collins Syndrome 1
Cryptorchidism, Lacrimal duct stenosis, Ptosis, Sparse lower eyelashes, Downslanted palpebral fis... OMIM:154500
Adult Syndrome
Absent nipple, Nasolacrimal duct obstruction, Hypoplastic nipples, Conjunctivitis, Breast hypoplasia OMIM:103285
Ramos-Arroyo Syndrome
Narrow palpebral fissure, Upslanted palpebral fissure, Nasolacrimal duct obstruction, Dacryocystitis ORPHA:1051
Isolated Osteopoikilosis
Dacryocystitis ORPHA:166119
Fontaine Progeroid Syndrome
Short palpebral fissure, Absent nipple, Cryptorchidism, Downslanted palpebral fissures, Hypoplast... OMIM:612289
Proboscis Lateralis
Orbital cyst, Unilateral narrow palpebral fissure, Nasolacrimal duct obstruction, Ptosis, Eyelid ... ORPHA:141099
Jacobsen Syndrome
Cryptorchidism, Abnormal eyelash morphology, Nasolacrimal duct obstruction, Ptosis, Eyelid colobo... OMIM:147791
Aneurysm-Osteoarthritis Syndrome
Intervertebral disc degeneration, Osteochondritis dissecans, Knee osteoarthritis, Osteoarthritis,... ORPHA:284984
Linear Skin Defects With Multiple Congenital Anomalies 3
Lacrimal duct atresia OMIM:300952
Adult Syndrome
Hypoplastic nipples, Breast hypoplasia, Nasolacrimal duct obstruction, Absent nipple ORPHA:978
Adult-Onset Still Disease
Joint swelling, Cartilage destruction, Arthritis ORPHA:829
Branchiootorenal Syndrome 1
Lacrimal duct stenosis, Euthyroid goiter, Lacrimal duct aplasia OMIM:113650
Limb-Mammary Syndrome
Blepharitis, Absent lacrimal punctum, Absent nipple, Chronic irritative conjunctivitis, Sparse ey... ORPHA:69085
Atypical Werner Syndrome
Short palm, Intervertebral disc degeneration, Rocker bottom foot, Chondrocalcinosis, Osteolytic d... ORPHA:79474
Alkaptonuria
Osteoarthritis, Joint dislocation, Cartilage destruction, Calcification of cartilage, Joint swell... ORPHA:56
Branchiootic Syndrome
Abnormal nasolacrimal system morphology ORPHA:52429
Aspergillosis
Dacryocystitis ORPHA:1163
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Upslanted palpebral fissure, Sparse lateral eyebrow, Cryptorchidism, Lacrimal duct stenosis, Ptos... OMIM:617506
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Downslanted palpebral fissures, Nasolacrimal duct obstruction, Synophrys OMIM:300966
Neu-Laxova Syndrome
Abnormal eyelid morphology, Pterygium, Abnormal eyelash morphology, Abnormal nasolacrimal system ... ORPHA:2671
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Lacrimal duct stenosis, Palpebral edema, Dermatochalasis ORPHA:221139
Tolchin-Le Caignec Syndrome
Thick eyebrow, Short palpebral fissure, Hooded eyelid, Nasolacrimal duct obstruction OMIM:618971
Loeys-Dietz Syndrome 3
Craniosynostosis, Hip osteoarthritis, Intervertebral disc degeneration, Knee osteoarthritis, Oste... OMIM:613795
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Absent lacrimal punctum, Ptosis OMIM:129400
Arboleda-Tham Syndrome
Upper eyelid edema, Lacrimal duct stenosis, Thin eyebrow, Ptosis, Highly arched eyebrow, Sparse m... OMIM:616268
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cryptorchidism, Downslanted palpebral fissures, Dacryocystitis, Decreased testicular size ORPHA:251028
Bor Syndrome
Abnormal lacrimal duct morphology ORPHA:107
Neuroocular Syndrome
Long eyelashes, Thick eyebrow, Lagopthalmos, Hooded upper eyelid, Nasolacrimal duct obstruction, ... OMIM:619539
Digeorge Syndrome
Scoliosis, Intervertebral disc degeneration, Patellar dislocation OMIM:188400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Absent lacrimal punctum, Supernumerary nipple, Sparse eyebrow, Sparse eyelashes, Ankyloblepharon ORPHA:1071
Johanson-Blizzard Syndrome
Absent lacrimal punctum ORPHA:2315
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Upslanted palpebral fissure, Abnormal eyelash morphology, Ptosis, Epicanthus, Abnormal eyelid mor... ORPHA:2526
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Lacrimal duct stenosis OMIM:151050
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Central diabetes insipidus, Blepharitis, Absence of Stensen duct, Cryptorchidism, Sparse eyebrow,... OMIM:604292
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Abnormal eyelid morphology, Abnormal nasolacrimal system morphology ORPHA:2396
Gabriele-De Vries Syndrome
Cryptorchidism, Lacrimal duct stenosis, Sparse eyebrow, Ptosis, Downslanted palpebral fissures, T... ORPHA:506358
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Central diabetes insipidus, Blepharitis, Absence of Stensen duct, Cryptorchidism, Blepharophimosi... OMIM:129900
Reactive Arthritis
Joint swelling, Cartilage destruction, Arthritis ORPHA:29207
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Short palpebral fissure, Cryptorchidism, Blepharophimosis, Thyroid dysgenesis, Ectopic thyroid, T... ORPHA:3047
Malt Lymphoma
Abnormal nasolacrimal system morphology ORPHA:52417
Oculoauricular Syndrome
Nasolacrimal duct obstruction OMIM:612109
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Blepharitis, Cryptorchidism, Thin eyebrow, Abnormal eyelash morphology, Absent eyebrow, Abnormal ... ORPHA:2273
Rubinstein-Taybi Syndrome 1
Long eyelashes, Cryptorchidism, Thick eyebrow, Nasolacrimal duct obstruction, Ptosis, Downslanted... OMIM:180849
Bosma Arhinia Microphthalmia Syndrome
Cryptorchidism, Lacrimal duct atresia, Synophrys OMIM:603457
Microphthalmia With Linear Skin Defects Syndrome
Abnormal testis morphology, Abnormal eyelash morphology, Abnormal eyelid morphology, Abnormal nas... ORPHA:2556
Fraser Syndrome 1
Cryptophthalmos, Cryptorchidism, Absent eyelashes, Absent eyebrow, Lacrimal duct aplasia, Malform... OMIM:219000
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Trichiasis, Cryptorchidism, Ptosis, Nasolacrimal duct obstruction, Downslanted palpebral fissures... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Trichiasis, Cryptorchidism, Ptosis, Nasolacrimal duct obstruction, Downslanted palpebral fissures... ORPHA:353284
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Abnormal nasolacrimal system morphology ORPHA:2658
Hardikar Syndrome
Bile duct proliferation, Lacrimal duct stenosis OMIM:301068
Branchiooculofacial Syndrome
Upslanted palpebral fissure, Cryptorchidism, Supernumerary nipple, Nasolacrimal duct obstruction,... OMIM:113620
Igg4-Related Kidney Disease
Sialadenitis, Abnormality of the anterior pituitary, Dacryocystitis ORPHA:449395
Nocardiosis
Conjunctivitis, Dacryocystitis ORPHA:31204
Saethre-Chotzen Syndrome
Shallow orbits, Ptosis, Abnormal nasolacrimal system morphology OMIM:101400
Fraser Syndrome
Cryptorchidism, Malformed lacrimal duct, Cryptophthalmos, Lacrimal duct aplasia ORPHA:2052
Vascular Ehlers-Danlos Syndrome
Hypoplastic lacrimal duct, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash mo... ORPHA:286
Leukocyte Adhesion Deficiency
Nasolacrimal sac granuloma, Conjunctivitis ORPHA:2968
Johanson-Blizzard Syndrome
Cryptorchidism, Hypoplastic nipples, Absent lacrimal punctum OMIM:243800
Neurodevelopmental Disorder With Infantile Epileptic Spasms
Epicanthus OMIM:619373
Autosomal Recessive Non-Syndromic Intellectual Disability
ORPHA:88616

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 Ncdn

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 Ncdn.

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

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MGI Allele Allele Type Produced
Ncdntm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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