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Gene: Ccdc141 MGI:1919735

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Gene Summary

Name:
coiled-coil domain containing 141
Synonyms:
ENSMUSG00000075261,  2610301F02Rik,  CAMDI

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 System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Ccdc141tm1.1(KOMP)Wtsi HOM Early adult 5.92×10-11

Download data as:  TSV  XLS

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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
Aorta  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

37 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Human diseases caused by Ccdc141 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 Ccdc141 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Kallmann Syndrome
Ataxia, Gait disturbance ORPHA:478

The table below shows human diseases predicted to be associated to Ccdc141 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microcephaly 9, Primary, Autosomal Recessive
Impulsivity, Aggressive behavior, Simplified gyral pattern, Self-injurious behavior, Compulsive b... OMIM:614852
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Abnormality of neuronal migration, Attention deficit hype... OMIM:618709
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Polymicrogyria, Simplified gyral pattern, Abnorm... OMIM:604317
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:300067
Lissencephaly 3
Ataxia, Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, ... OMIM:611603
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Periventricular nodular heterotopia OMIM:618572
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit hyperactiv... OMIM:620065
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Symmetrical Thalamic Calcifications
Ataxia, Abnormality of neuronal migration ORPHA:1314
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Attention deficit hyperactivi... ORPHA:300573
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pattern, Truncal ... OMIM:618273
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Tip-toe gait, Difficulty walking ORPHA:370980
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Abnormality of neuronal migration, Low frustration to... ORPHA:163681
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Abnormality of neuronal migration, Depression OMIM:300957
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria ORPHA:352682
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Periventricular heterotopia, Self-biting OMIM:300624
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior ORPHA:309246
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Dysphagia ORPHA:89844
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Glutathionuria
Gray matter heterotopia, Dysdiadochokinesis OMIM:231950
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Dysphagia OMIM:617008
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph... OMIM:616212
Tetrasomy 18P
Gait disturbance, Abnormality of neuronal migration ORPHA:3307
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly OMIM:615191
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ataxia OMIM:617201
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Subependymal Nodular Heterotopia
Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration ORPHA:101030
Acalvaria
Abnormality of neuronal migration ORPHA:945
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Gray matter heterotopia, Gait imbalance, Attention defi... OMIM:619312
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Periventricular heterotopia, Aggressive behavior, Self-injurious behavior, Irritability OMIM:619833
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Chiari Malformation Type Ii
Gray matter heterotopia, Ataxia, Dysphagia OMIM:207950
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:899
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Joubert Syndrome
Polymicrogyria, Ataxia, Abnormality of neuronal migration, Gait disturbance ORPHA:475
Man1B1-Cdg
Broad-based gait, Polyphagia, Periventricular heterotopia ORPHA:397941
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Impulsivity, Periventricular h... OMIM:618929
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Ataxia, Periventricular heterotopia ORPHA:255138
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Inability to walk, Ataxia OMIM:617563
Periventricular Nodular Heterotopia 9
Broad-based gait, Gray matter heterotopia, Compulsive behaviors, Attention deficit hyperactivity ... OMIM:618918
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyr... OMIM:614643
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:35107
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2211
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Difficulty walking ORPHA:531151
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Polymicrogyria, Type II lissencephaly ORPHA:370959
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Abnormality of neuronal migration, Compulsive behaviors ORPHA:261236
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria, Dysphagia OMIM:619775
Coffin-Lowry Syndrome
Self-injurious behavior, Gait disturbance, Abnormality of neuronal migration ORPHA:192
Joubert Syndrome With Oculorenal Defect
Ataxia, Abnormality of neuronal migration ORPHA:2318
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Inappropriate laughter, Difficulty walking, Periventricular heterotopia OMIM:618476
Alg11-Cdg
Gray matter heterotopia, Ataxia ORPHA:280071
Neu-Laxova Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2671
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Inability to walk, Dysphagia ORPHA:26791
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Dysmetria, Bi... ORPHA:98889
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Joubert Syndrome With Hepatic Defect
Ataxia, Abnormality of neuronal migration, Gait disturbance ORPHA:1454
Koolen-De Vries Syndrome
Gray matter heterotopia, Hyperactivity, Impulsivity OMIM:610443
Peroxisome Biogenesis Disorder 1A (Zellweger)
Unsteady gait, Gray matter heterotopia, Dysphagia, Loss of ambulation, Polymicrogyria OMIM:214100
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Self-injurious behavior, Ataxia ORPHA:314679
Galloway-Mowat Syndrome
Pachygyria, Abnormality of neuronal migration ORPHA:2065
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt... ORPHA:75857
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Abnormality of neuronal migration OMIM:608836
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Abnormality of neuronal... ORPHA:464311
Orofaciodigital Syndrome Type 6
Ataxia, Abnormality of neuronal migration, Gait disturbance ORPHA:2754
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:157
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern OMIM:615219
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Simplified gyral pattern, Self-injurious behavior, Lissencephaly, Pa... ORPHA:468631
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:228308
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Dysphagia ORPHA:261250
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Attention deficit hyperactivity disorder OMIM:305450
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Periventricular heterotopia OMIM:618733
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Attention deficit hyperactivity disorder ORPHA:647
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Bruxism ORPHA:453499
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Bruxism ORPHA:48652
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria OMIM:620024
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria, Attention deficit hyperactivity disorder OMIM:618820
Arima Syndrome
Gray matter heterotopia, Polydipsia, Ataxia OMIM:243910
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Vici Syndrome
Gray matter heterotopia, Dysphagia OMIM:242840
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Inability to walk, Bruxism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Inability to walk, Bruxism ORPHA:352665
Holoprosencephaly
Abnormality of neuronal migration ORPHA:2162
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Aicardi Syndrome
Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:304050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration OMIM:311200
Smith-Lemli-Opitz Syndrome
Hyperactivity, Periventricular heterotopia, Self-mutilation, Aggressive behavior OMIM:270400
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia OMIM:619895
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Microlissencephaly, Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:210710
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Type II lissencephaly OMIM:615287
Orofaciodigital Syndrome Xiv
Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia OMIM:615948
Genitopatellar Syndrome
Periventricular heterotopia, Pachygyria, Dysphagia OMIM:606170
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration OMIM:236680
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Periventricular heterotopia, Inability to walk, Bruxism, Dysphagia, Pol... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Periventricular heterotopia, Inability to walk, Bruxism, Dysphagia, Polymicrogy... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Periventricular heterotopia, Inability to walk, Bruxism, Dysphagia, Polymicrogy... ORPHA:261552
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Kallmann Syndrome
Ataxia, Gait disturbance ORPHA:478

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 Ccdc141

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 Ccdc141.

No publications found that use IMPC mice or data for Ccdc141.

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
Ccdc141tm1.1(KOMP)Wtsi Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Ccdc141tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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