Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C
Synonyms:
M-Sema F,  Semai,  Semacl1,  Semaf

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 Sema4c 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 Sema4c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Lissencephaly 1
Agyria, Cerebellar hypoplasia, Gray matter heterotopia, Subcortical band heterotopia, Lissencepha... OMIM:607432
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Gray matter heterotopia, Hydrocephalus, Polymicrogyria OMIM:604213
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Microlissencephaly
Subcortical heterotopia, Cerebellar atrophy, Periventricular heterotopia, Simplified gyral patter... ORPHA:1083
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Cerebellar hypoplasia, Gray matter heterotopia, Dysgyria, Hydrocephalus,... ORPHA:352682
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly, Pachygyria OMIM:615411
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Pachygyria, Gray matter heterotopia, Subcortical band heterotopia OMIM:615412
Lissencephaly 3
Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria, Cerebellar vermis hyp... OMIM:611603
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Cerebellar hypoplasia, Periventricular nodular heterotopia OMIM:618572
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Simplified gyral pattern, Lissencephaly, Pachygyria, Polymicrogyria, Abn... OMIM:604317
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Cerebellar hypoplasia, Lissencephaly, Periventricular ribbonlike heterotopia, Hypoplasia of the pons OMIM:618677
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Lissencephaly, X-Linked, 1
Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Death in infancy OMIM:300067
Periventricular Nodular Heterotopia 6
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:615544
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Acalvaria
Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality... ORPHA:945
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Lissencephaly 5
Occipital encephalocele, Gray matter heterotopia, Subcortical band heterotopia, Cerebellar hemisp... OMIM:615191
Band Heterotopia
Polymicrogyria, Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus OMIM:600348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Neurocutaneous Melanocytosis
Generalized hirsutism, Abnormality of retinal pigmentation, Chiari malformation, Dandy-Walker mal... ORPHA:2481
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of ... ORPHA:65
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar dysplasia, Cerebellar cyst, Cerebellar hypoplasia, Hypoplasia of the pons, Dea... OMIM:613153
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Gray matter heterotopia, Cerebel... OMIM:615960
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:617201
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Pachygyria, Gray matter heterotopia, Cerebellar cyst ORPHA:370980
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyri... ORPHA:300573
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pachygy... OMIM:616212
Intellectual Developmental Disorder, Autosomal Dominant 13
Cerebellar hypoplasia, Pachygyria, Abnormality of neuronal migration OMIM:614563
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Mismatch Repair Cancer Syndrome 4
Multiple cafe-au-lait spots, Gray matter heterotopia OMIM:619101
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Polymicrogyria, Neonatal death OMIM:619602
Joubert Syndrome 30
Dandy-Walker malformation, Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dyspl... OMIM:617622
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cerebellar cyst, Cerebellar hypoplasia, Hypoplasia of the pons, Hydrocephal... OMIM:615181
Subependymal Nodular Heterotopia
Myelomeningocele, Occipital encephalocele, Nasofrontal encephalocele, Gray matter heterotopia, Po... ORPHA:101030
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Cerebellar hypoplasia, Anencephaly, Gray matter heterotopia, Dandy-Walke... OMIM:615287
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Gray matter heterotopia, Orbital encephalocele, Alopecia OMIM:164180
Chiari Malformation Type Ii
Myelomeningocele, Gray matter heterotopia, Chiari malformation, Spina bifida, Hydrocephalus, Cerv... OMIM:207950
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Abnormal toenail morphology, Lissencephaly, Macrogyria, Exencephaly, ... ORPHA:2211
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Cerebellar hypoplasia, Pachygyria, Abnormality of neuronal migration OMIM:608840
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Cerebellar cyst, Occipital encephalocele, Cerebellar hypoplasia, Hypopl... ORPHA:370959
Edinburgh Malformation Syndrome
Hydrocephalus, Generalized hirsutism, Synophrys, Brushfield spots, Hirsutism, Abnormality of neur... ORPHA:1895
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Hemimegalencephaly
Polymicrogyria, Abnormal neuron morphology, Pachygyria, Gray matter heterotopia ORPHA:99802
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Subcortical heterotopia, Cerebellar hypoplasia, Gray matter heterotopia, Dandy-Walker mal... OMIM:614643
Acromelic Frontonasal Dysostosis
Retrocerebellar cyst, Periventricular nodular heterotopia, Gray matter heterotopia, Onychogryposi... OMIM:603671
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ... ORPHA:79435
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Walker-Warburg Syndrome
Abnormal cortical gyration, Cerebellar hypoplasia, Dandy-Walker malformation, Lissencephaly, Macr... ORPHA:899
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Abnormal eyelash morphology, Aplasia/Hypoplasia of the cereb... ORPHA:2518
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Joubert Syndrome
Highly arched eyebrow, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Encephal... ORPHA:475
Vici Syndrome
Cerebellar hypoplasia, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Gray ma... ORPHA:1493
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Abnormality of neuronal migration, Cerebellar vermis hypoplasia OMIM:300957
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Gray matter heterotopia, Alopecia OMIM:300337
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebellar hypoplasia, Abnormal hair morphology, Abnormal eyelash mor... ORPHA:2671
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Hydrocephalus, Abnormality of neuronal migration, Encephalocele, Cerebella... ORPHA:2318
Molybdenum Cofactor Deficiency, Complementation Group C
Cerebellar hypoplasia, Polymicrogyria, Neonatal death, Hypoplasia of the pons OMIM:615501
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Man1B1-Cdg
Long eyebrows, Long eyelashes, Periventricular heterotopia, Cerebellar hypoplasia, Multiple cafe-... ORPHA:397941
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Hydrocephalus OMIM:187600
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Abnormality of neuronal migration, Encephalocele, Hydrocephalus ORPHA:93274
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Gray matter heterotopia, Lissencephaly, Hydrocephalus OMIM:617822
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Cerebellar hypoplasia, Pachygyria ORPHA:255138
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
3C Syndrome
Hypoplastic fingernail, Dandy-Walker malformation, Hydrocephalus, Death in infancy, Aplasia/Hypop... ORPHA:7
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Cerebellar hypoplasia, Hydrocephalus OMIM:618476
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Lissencephaly, Simplified gyral pattern, Gray matter heterotopia OMIM:615219
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Sparse lateral eyebrow OMIM:619694
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Cerebellar vermis h... ORPHA:157
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Highly arched eyebrow, Hydrocephalus, Aplasia/Hypoplasia of the cerebell... ORPHA:1454
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Abnormality of neuronal migration ORPHA:44
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Blue irides, White hair, Ocular albinism, Absent skin pigment... OMIM:203100
Radio-Tartaglia Syndrome
Small nail, Long eyebrows, Long eyelashes, Thick eyebrow, Gray matter heterotopia, Highly arched ... OMIM:619312
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Desmosterolosis
Abnormal cortical gyration, Lissencephaly, Macrogyria, Pachygyria, Hydrocephalus, Polymicrogyria,... ORPHA:35107
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Abnormality of neuronal migration, Cerebellar vermis atrophy ORPHA:163681
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus ORPHA:2655
Coffin-Lowry Syndrome
Hyperconvex fingernails, Abnormality of retinal pigmentation, Hypoplastic fingernail, Aplasia/Hyp... ORPHA:192
Vici Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Gray matter heterotopia, Ocular... OMIM:242840
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Pseudo-Torch Syndrome 2
Cerebellar hypoplasia, Polymicrogyria, Gray matter heterotopia OMIM:617397
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Cerebellar vermis h... ORPHA:228308
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Thick eyebrow, Gray matter heterotopia, Low anterior hairline, High anterior hairline, Horizontal... OMIM:618797
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Cerebellar hypoplasia, Gray matter heterotopia, Highly arched eyebro... ORPHA:75857
Arima Syndrome
Occipital meningocele, Dilated fourth ventricle, Gray matter heterotopia, Agenesis of cerebellar ... OMIM:243910
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Periventricular heterotopia, Cerebellar hypoplasia, Lobar holoprosencephaly, ... ORPHA:468631
Galloway-Mowat Syndrome
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Bohring-Opitz Syndrome
Supernumerary nipple, Gray matter heterotopia, Dandy-Walker malformation, Thick hair, Low anterio... OMIM:605039
Holoprosencephaly
Thick eyebrow, Highly arched eyebrow, Spinal dysraphism, Dandy-Walker malformation, Synophrys, Hy... ORPHA:2162
Aicardi Syndrome
Sparse lateral eyebrow, Gray matter heterotopia, Chiari malformation, Dandy-Walker malformation, ... OMIM:304050
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Cerebellar cyst, Gray matter heterotopia, Alopecia,... OMIM:311200
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Perisylvian predominant thick cortex pachygyria, Bilateral perisylvian poly... ORPHA:98889
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Polymicrogyria, Abnormality of neuronal migration, Hypoplastic toenails OMIM:608836
Fontaine Progeroid Syndrome
Small nail, Hypertrichosis, Coarse hair, Absent nipple, Periventricular heterotopia, Cerebellar h... OMIM:612289
Pagod Syndrome
Spina bifida, Death in infancy, Meningocele, Abnormality of neuronal migration, Encephalocele ORPHA:991
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Highly arched eyebrow, Cerebellar vermis hypoplasia ORPHA:2754
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Arrhinencephaly, Anencephaly, Gray matter heterotopia, Dandy-Walker m... OMIM:236680
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus ORPHA:1860
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:261236
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Gray matter heterotopia, Synophrys, Polymicrogyria, Hirsutism OMIM:618918
Opitz-Kaveggia Syndrome
Fine hair, Gray matter heterotopia, Sparse hair, Frontal upsweep of hair, Hydrocephalus, Umbilica... OMIM:305450
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Cerebellar vermis hypoplasia ORPHA:314679
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Gray matter heterotopia, Agenesis of cerebellar vermis, Sparse eyelashes, Pachygy... OMIM:210710
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Death in childhood, Pigmentary retinopathy, Brushfield spots, Polymicrog... OMIM:214100
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Van Maldergem Syndrome 2
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia OMIM:615546
Miller-Dieker Lissencephaly Syndrome
Agyria, Lissencephaly, Pachygyria, Gray matter heterotopia OMIM:247200
Koolen-De Vries Syndrome
Fair hair, Abnormality of hair texture, Gray matter heterotopia, Iris hypopigmentation OMIM:610443
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Genitourinary And/Or Brain Malformation Syndrome
Chiari malformation, Holoprosencephaly, Gray matter heterotopia, Polymicrogyria OMIM:618820
Congenital Ptosis
Cafe-au-lait spot, Piebaldism, Long eyelashes ORPHA:91411
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pat... OMIM:615948
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Nijmegen Breakage Syndrome
Abnormal hair morphology, Freckling, Low anterior hairline, Abnormality of neuronal migration, Ab... ORPHA:647
Mismatch Repair Cancer Syndrome 1
Multiple cafe-au-lait spots, Hypopigmentation of the skin, Gray matter heterotopia, Axillary frec... OMIM:276300
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Branchial anomaly, Gray matter heterotopia ORPHA:453499
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Supernumerary nipple, Gray matter heterotopia ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Supernumerary nipple, Gray matter heterotopia ORPHA:453504
Proteus Syndrome
Generalized hirsutism, Central heterochromia, Abnormality of the nail, Abnormality of skin pigmen... ORPHA:744

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 Sema4c

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 Sema4c.

No publications found that use IMPC mice or data for Sema4c.

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MGI Allele Allele Type Produced
Sema4ctm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Sema4ctm374639(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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