Gene Summary

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

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Ccdc141tm1.1(KOMP)Wtsi HOM Early adult 2.84×10-11

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Adult LacZ

LacZ Images Section

37 Images

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
Compulsive behaviors, Impulsivity, Simplified gyral pattern, Motor tics, Self-injurious behavior,... OMIM:614852
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Abnormality of neuronal migration, Ataxia, Motor stereo... OMIM:618709
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Polymicrogyria, Gray matter heterotopia, Impulsivity, Abnormality of neuronal migr... OMIM:604317
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Lissencephaly, X-Linked, 1
Agyria, Gray matter heterotopia, Ataxia, Pachygyria, Lissencephaly OMIM:300067
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Ataxia, Pachygyria, Lissencephaly, Periventricul... OMIM:611603
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:1083
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Inability to walk OMIM:618572
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria 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
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia ORPHA:101029
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Periventricular nodular heterotopia, Motor stereotypy OMIM:620065
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Ataxia ORPHA:1314
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Pa... ORPHA:300573
Chudley-Mccullough Syndrome
Polymicrogyria, Gray matter heterotopia OMIM:604213
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Truncal ataxia, Unsteady gait, Simplified gyral pattern, Periventricular heter... OMIM:618273
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, Stereotypical hand wringing, ... ORPHA:163681
Intellectual Developmental Disorder, X-Linked 12
Depression, Abnormality of neuronal migration, Gait disturbance OMIM:300957
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Fragile X Syndrome
Hyperactivity, Periventricular heterotopia, Recurrent hand flapping, Self-biting OMIM:300624
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response ORPHA:309246
Congenital Muscular Dystrophy Without Intellectual Disability
Tip-toe gait, Difficulty walking, Gray matter heterotopia, Pachygyria ORPHA:370980
Band Heterotopia
Subcortical band heterotopia, Polymicrogyria, Gray matter heterotopia OMIM:600348
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly, Dysphagia ORPHA:89844
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Dysphagia OMIM:617008
Glutathionuria
Dysdiadochokinesis, Gray matter heterotopia OMIM:231950
Hemimegalencephaly
Polymicrogyria, Gray matter heterotopia, Pachygyria ORPHA:99802
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... OMIM:616212
Tetrasomy 18P
Abnormality of neuronal migration, Gait disturbance ORPHA:3307
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Lissencephaly 5
Subcortical band heterotopia, Type II lissencephaly, Gray matter heterotopia OMIM:615191
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Ataxia, Gray matter heterotopia OMIM:617201
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Restlessness ORPHA:100924
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Subependymal Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Gray matter heterotopia ORPHA:101030
Acalvaria
Abnormality of neuronal migration ORPHA:945
Radio-Tartaglia Syndrome
Gait imbalance, Gray matter heterotopia, Impulsivity, Ataxia, Dysphagia, Motor stereotypy, Attent... OMIM:619312
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Hyperactivity, Dysphagia, Motor stereotypy ORPHA:447997
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Irritability, Ataxia, Self-injurious behavior, Periventricular heterotopia, Aggressive behavior OMIM:619833
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Chiari Malformation Type Ii
Ataxia, Gray matter heterotopia, Dysphagia OMIM:207950
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Joubert Syndrome 30
Polymicrogyria, Gray matter heterotopia OMIM:617622
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Man1B1-Cdg
Periventricular heterotopia, Polyphagia, Broad-based gait ORPHA:397941
Joubert Syndrome
Polymicrogyria, Abnormality of neuronal migration, Ataxia, Gait disturbance ORPHA:475
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Attention deficit hyperactivity disorder, Self-injurious behavior, Periventricular heterotopia, I... OMIM:618929
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Ataxia, Pachygyria ORPHA:255138
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:899
Choreoacanthocytosis
Self-injurious behavior, Irritability, Socially inappropriate behavior, Hair-pulling, Falls, Emot... ORPHA:2388
Periventricular Nodular Heterotopia 9
Broad-based gait, Polymicrogyria, Compulsive behaviors, Gray matter heterotopia, Attention defici... OMIM:618918
Orofaciodigital Syndrome Xvi
Inability to walk, Ataxia, Gray matter heterotopia OMIM:617563
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Agyria, Gray matter heterotopia, Subcortical heterotopia, ... OMIM:614643
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Congenital Muscular Dystrophy With Cerebellar Involvement
Polymicrogyria, Type II lissencephaly, Gray matter heterotopia ORPHA:370959
9Q21.13 Microdeletion Syndrome
Difficulty walking, Gray matter heterotopia ORPHA:531151
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Abnormality of neuronal migration, Compulsive behaviors ORPHA:261236
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:35107
Coffin-Lowry Syndrome
Self-injurious behavior, Abnormality of neuronal migration, Gait disturbance ORPHA:192
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Gray matter heterotopia, Dysphagia OMIM:619775
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Ataxia ORPHA:2318
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Alg11-Cdg
Ataxia, Gray matter heterotopia ORPHA:280071
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Inappropriate laughter, Periventricular heterotopia, Ataxia, Difficulty walking OMIM:618476
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gray matter heterotopia, Dysphagia ORPHA:26791
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Broad-based gait, Emotional lability, Polyphagia, Fixated interests, M... OMIM:620330
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2671
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Pachygyria, Subcortical band heterotopia, Peri... OMIM:601390
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Dysphagia, Bi... ORPHA:98889
Koolen-De Vries Syndrome
Hyperactivity, Gray matter heterotopia, Impulsivity OMIM:610443
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia OMIM:617397
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Ataxia, Gait disturbance ORPHA:1454
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Gray matter heterotopia, Loss of ambulation, Unsteady gait, Dysphagia OMIM:214100
Cerebrofacioarticular Syndrome
Self-injurious behavior, Ataxia, Gray matter heterotopia ORPHA:314679
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria ORPHA:2065
6Q Terminal Deletion Syndrome
Polymicrogyria, Gray matter heterotopia, Gait ataxia, Abnormality of neuronal migration, Perivent... ORPHA:75857
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Attention deficit hyperactivity disorder, Abnormality of neuronal migration, Gait disturbance, Mo... ORPHA:464311
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Lissencephaly, Gray matter heterotopia OMIM:615219
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Abnormality of neuronal migration OMIM:608836
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Ataxia, Gait disturbance ORPHA:2754
Alkuraya-Kucinskas Syndrome
Lissencephaly, Gray matter heterotopia OMIM:617822
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Abnormality of neuronal migration, Pachygyria ORPHA:157
Galloway-Mowat Syndrome 1
Abnormality of neuronal migration, Ataxia, Pachygyria OMIM:251300
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Gray matter heterotopia OMIM:614887
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Simplified gyral pattern, Pachygyria, Self-injurious behavior, Motor stereotypy, ... ORPHA:468631
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Abnormality of neuronal migration, Pachygyria ORPHA:228308
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia OMIM:620475
Miller-Dieker Lissencephaly Syndrome
Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria OMIM:247200
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Dysphagia ORPHA:261250
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Opitz-Kaveggia Syndrome
Attention deficit hyperactivity disorder, Gray matter heterotopia OMIM:305450
Van Maldergem Syndrome 2
Subcortical band heterotopia, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615546
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Unsteady gait OMIM:618733
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bruxism, Gray matter heterotopia ORPHA:453499
Nijmegen Breakage Syndrome
Attention deficit hyperactivity disorder, Abnormality of neuronal migration ORPHA:647
Monosomy 22Q13.3
Hyperactivity, Bruxism, Hair-pulling ORPHA:48652
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Gray matter heterotopia, Pachygyria OMIM:620024
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Genitourinary And/Or Brain Malformation Syndrome
Attention deficit hyperactivity disorder, Polymicrogyria, Gray matter heterotopia OMIM:618820
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia OMIM:620654
Arima Syndrome
Polydipsia, Ataxia, Gray matter heterotopia OMIM:243910
Vici Syndrome
Gray matter heterotopia, Dysphagia OMIM:242840
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Bruxism, Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Bruxism, Gray matter heterotopia ORPHA:352665
Holoprosencephaly
Abnormality of neuronal migration ORPHA:2162
Aicardi Syndrome
Polymicrogyria, Gray matter heterotopia, Pachygyria OMIM:304050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353277
Orofaciodigital Syndrome I
Abnormal cortical gyration, Gray matter heterotopia OMIM:311200
Smith-Lemli-Opitz Syndrome
Hyperactivity, Periventricular heterotopia, Self-mutilation, Aggressive behavior OMIM:270400
Holoprosencephaly 14
Periventricular heterotopia, Gray matter heterotopia OMIM:619895
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Polymicrogyria, Microlissencephaly, Gray matter heterotopia, Pachygyria OMIM:210710
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:603671
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter heterotopia OMIM:612289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia OMIM:615287
Orofaciodigital Syndrome Xiv
Polymicrogyria, Periventricular heterotopia, Simplified gyral pattern OMIM:615948
Genitopatellar Syndrome
Periventricular heterotopia, Dysphagia, Pachygyria OMIM:606170
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Gray matter heterotopia OMIM:236680
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome
Inability to walk, Broad-based gait, Polymicrogyria, Ataxia, Dysphagia, Motor stereotypy, Bruxism... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Broad-based gait, Polymicrogyria, Dysphagia, Motor stereotypy, Bruxism, Perive... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Broad-based gait, Polymicrogyria, Dysphagia, Motor stereotypy, Bruxism, Perive... 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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