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Gene: Sema4c MGI:109252

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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

Order Alleles

IMPC Data Collections

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

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.

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
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect OMIM:615041
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Lissencephaly 1
Gray matter heterotopia, Cerebellar hypoplasia, Agyria, Lissencephaly, Subcortical band heterotop... OMIM:607432
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Polymicrogyria OMIM:604213
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Periventricular nodular heterotopia OMIM:618185
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Cerebellar hypoplasia, Hydrocephalus, Type II lissencephaly, Dysgyria, O... ORPHA:352682
Albinism-Deafness Syndrome
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Lissencephaly 3
Gray matter heterotopia, Agyria, Cerebellar vermis hypoplasia, Lissencephaly, Pachygyria, Periven... OMIM:611603
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Spina bifida, Hydrocepha... ORPHA:945
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria OMIM:300067
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... ORPHA:998
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Lissencephaly 5
Cerebellar hemisphere hypoplasia, Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, ... OMIM:615191
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Meningocele, Melanocytic nevus, Chiari malformation, Abnorm... ORPHA:2481
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Agyria, Pachygyria ORPHA:1084
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Cerebellar hypoplasia, Simplified gyral pattern, Cerebellar cyst, Hydroceph... OMIM:613153
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Encephalocele, Abnormality of neuronal migration, Ab... ORPHA:65
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Polymicrogyria ORPHA:101029
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Cerebellar hypoplasia, Agyria, Lissencephaly, Hirsutism, Neonatal death, Low an... OMIM:616342
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Synophrys, Lissencephaly, Microlissencepha... OMIM:616212
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Gray matter heterotopia, Cerebellar dysplasia, Cerebellar cyst, Cerebel... OMIM:615960
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Lissencephaly, Hypoplasia of the pons, Pachy... ORPHA:300573
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... OMIM:604317
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Cerebellar cyst, Gray matter heterotopia, Pachygyria ORPHA:370980
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Subependymal Nodular Heterotopia
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Occipi... ORPHA:101030
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the p... OMIM:616171
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Multiple cafe-au-lait spots OMIM:619101
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Abnormal cortical gyration, Polymicrogyria OMIM:619602
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern, Cerebellar vermis hypoplasia, Cerebellar h... OMIM:618273
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Joubert Syndrome 30
Cerebellar atrophy, Superior cerebellar dysplasia, Gray matter heterotopia, Dandy-Walker malforma... OMIM:617622
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Chiari Malformation Type Ii
Gray matter heterotopia, Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Cerv... OMIM:207950
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Band Heterotopia
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Oculocerebrocutaneous Syndrome
Alopecia, Gray matter heterotopia, Dandy-Walker malformation, Orbital encephalocele OMIM:164180
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog... ORPHA:2211
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration, Cerebellar hypoplasia OMIM:300049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria, Cerebellar hypoplasia OMIM:608840
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Death in infancy, Cerebellar hyp... OMIM:614643
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Gray matter heterotopia, Abnormal... ORPHA:370959
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Edinburgh Malformation Syndrome
Brushfield spots, Abnormality of neuronal migration, Synophrys, Hydrocephalus, Hirsutism, Low pos... ORPHA:1895
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Hemimegalencephaly
Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Waardenburg Syndrome Type 1
Meningocele, Premature graying of hair, Spina bifida, Synophrys, White eyelashes, White eyebrow, ... ORPHA:894
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Cerebellar hypoplasia, Abnormal ce... ORPHA:899
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Abnormal eyelash morphol... ORPHA:2518
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia OMIM:300957
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Joubert Syndrome
Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Polymicrogyria, Highly arched ey... ORPHA:475
Vici Syndrome
Hypopigmentation of the skin, Gray matter heterotopia, Death in infancy, Cerebellar hypoplasia, A... ORPHA:1493
Hypomelanosis Of Ito
Alopecia, Gray matter heterotopia, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Cerebellar hypoplasia, Abnormal ce... ORPHA:2671
Joubert Syndrome With Oculorenal Defect
Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Highly arched eyebrow, Cerebella... ORPHA:2318
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Hydrocephalus, Encephalocele, Abnormality of neuronal migration ORPHA:93274
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Pachygyria, Cerebellar hypoplasia ORPHA:255138
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Lissencephal... OMIM:617822
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Death in infancy, Hydroc... ORPHA:7
Holoprosencephaly 14
Gray matter heterotopia, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Alobar ... OMIM:619895
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly OMIM:615219
Glutathionuria
Gray matter heterotopia OMIM:231950
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Sparse lateral eyebrow OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Cerebellar hemisphere hypoplasia, Gray matter heterotopia, Cerebellar hypoplasia, Anencephaly, Hy... OMIM:615287
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Abnormality of retinal pigmentation ORPHA:44
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Hydrocephalus, Cerebellar vermis hypoplasia, Pachygyria, Polym... ORPHA:157
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... OMIM:203100
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Hydrocephalus, Occipital... ORPHA:1454
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia OMIM:617397
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Highly arched eyebrow, Polymicrogyria, Cerebellar vermis hypoplasia OMIM:619775
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Radio-Tartaglia Syndrome
High anterior hairline, Gray matter heterotopia, Small nail, Synophrys, Long eyebrows, Long eyela... OMIM:619312
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... ORPHA:35107
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Abnormality of retinal p... ORPHA:192
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Cerebellar vermis atrophy, Abnormality of neuronal migration ORPHA:163681
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria, Neonatal death, Cerebellar vermis hy... OMIM:620024
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Neonatal death, Hydrocephalus OMIM:187600
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus ORPHA:2655
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Hydrocephalus, Cerebellar vermis hypoplasia, Pachygyria, Polym... ORPHA:228308
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
High anterior hairline, Gray matter heterotopia, Horizontal eyebrow, Thick eyebrow, Low anterior ... OMIM:618797
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Neonatal death, Polymicrogyria OMIM:614887
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Abnormality of neuronal migration, Periventricular heterotopia, Cerebell... ORPHA:75857
Bohring-Opitz Syndrome
Gray matter heterotopia, Low anterior hairline, Supernumerary nipple, Hirsutism, Hypertrichosis, ... OMIM:605039
Acromelic Frontonasal Dysostosis
Retrocerebellar cyst, Gray matter heterotopia, Encephalocele, Periventricular nodular heterotopia... OMIM:603671
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria ORPHA:2065
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Branchial anomaly, Abnorm... ORPHA:2162
Orofaciodigital Syndrome I
Alopecia, Dry hair, Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration, Cerebe... OMIM:311200
Aicardi Syndrome
Gray matter heterotopia, Sparse lateral eyebrow, Chiari malformation, Spina bifida, Polymicrogyri... OMIM:304050
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Abnormality of neuronal migration, Perisylvian predominant thick cortex pac... ORPHA:98889
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoplastic toenails, Polymicrogyria, Abnormality of neuronal migration, Death in infancy OMIM:608836
Fontaine Progeroid Syndrome
Gray matter heterotopia, Sparse scalp hair, Small nail, Neonatal death, Periventricular heterotop... OMIM:612289
Orofaciodigital Syndrome Type 6
Highly arched eyebrow, Abnormality of neuronal migration, Cerebellar vermis hypoplasia ORPHA:2754
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia, Long eyelashes, Broad lateral eyebrow OMIM:608624
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic... OMIM:601390
Pagod Syndrome
Meningocele, Encephalocele, Abnormality of neuronal migration, Death in infancy, Spina bifida ORPHA:991
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Gray matter heterotopia, Sparse scalp hair, Abnormal cortical gyration, Death in ... OMIM:210710
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus ORPHA:1860
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Vici Syndrome
Hypopigmentation of the skin, Gray matter heterotopia, Ocular albinism, Albinism, Hypopigmentatio... OMIM:242840
Arima Syndrome
Dilated fourth ventricle, Gray matter heterotopia, Occipital meningocele, Agenesis of cerebellar ... OMIM:243910
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:261236
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration, Anencephaly, Arrhinencephaly, Stillbirth, Se... OMIM:236680
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Cerebellar vermis hypoplasia ORPHA:314679
Van Maldergem Syndrome 2
High anterior hairline, Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical... OMIM:615546
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Frontal upsweep of hair, Hydrocephalus, Fine hair, Sparse hair, Umbilica... OMIM:305450
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Gray matter heterotopia, Death in childhood, Pigmentary retinopathy, Polymicrog... OMIM:214100
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Synophrys, Periventricular nodular heterotopia, Hirsutism, Polymicrogyria OMIM:618918
Koolen-De Vries Syndrome
Fair hair, Iris hypopigmentation, Abnormality of hair texture, Gray matter heterotopia OMIM:610443
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Congenital Ptosis
Long eyelashes, Cafe-au-lait spot, Piebaldism ORPHA:91411
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Polymicrogyria, Hol... OMIM:615948
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Holoprosencephaly, Chiari malformation, Polymicrogyria OMIM:618820
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Freckling, Abnormal hair quantity, Abnormal hair morphology, L... ORPHA:647
Mismatch Repair Cancer Syndrome 1
Axillary freckling, Gray matter heterotopia, Hypopigmentation of the skin, Multiple cafe-au-lait ... OMIM:276300
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Branchial anomaly ORPHA:453499
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
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 A Point Mutation
Gray matter heterotopia, Branchial anomaly, Supernumerary nipple ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Branchial anomaly, Supernumerary nipple ORPHA:352665
Proteus Syndrome
Irregular hyperpigmentation, Abnormality of skin pigmentation, Melanocytic nevus, Gray matter het... 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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