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 2.50×10-11

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 0.74% (4 of 537)
aorta 0.19% (1 of 528)
blood 0.0%
bone marrow 0.0%
brain 0.91% (5 of 547)
brainstem 0.37% (2 of 539)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 529)
cecum 5.11% (18 of 352)
cerebellum 0.37% (2 of 542)
cerebral cortex 0.37% (2 of 535)
chest bone Unavailable
colon 14.96% (19 of 127)
diaphragm 0.0%
duodenum 4% (5 of 125)
epididymis 13.64% (18 of 132)
esophagus 1.63% (6 of 367)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.78% (1 of 128)
heart 0.37% (2 of 546)
hindlimb 0.0%
hippocampus 0.56% (3 of 532)
hypothalamus 0.37% (2 of 535)
ileum 15.45% (19 of 123)
jejunum 8.33% (10 of 120)
kidney 4.3% (23 of 535)
large intestine 5.08% (27 of 532)
liver 0.0%
lower urinary tract 0.19% (1 of 532)
lung 0.37% (2 of 547)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.35% (1 of 285)
midbrain 0.0%
olfactory lobe 0.37% (2 of 537)
ovary 0.19% (1 of 539)
oviduct 0.0%
pancreas 0.96% (5 of 522)
parathyroid gland 0.2% (1 of 508)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.19% (1 of 520)
peyers patch 0.0%
pituitary gland 0.19% (1 of 529)
prostate gland 2.23% (12 of 539)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 544)
small intestine 5.69% (31 of 545)
spinal cord 0.56% (3 of 534)
spleen 0.56% (3 of 531)
stomach 3.72% (20 of 537)
stomach pyloric region 0.0%
striatum 0.37% (2 of 535)
sublingual gland 0.0%
submandibular gland 1.54% (2 of 130)
testis 0.95% (5 of 524)
thymus 0.19% (1 of 535)
thyroid gland 3.22% (17 of 528)
tongue 3.97% (5 of 126)
trachea 0.55% (3 of 544)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.38% (2 of 527)
vagina 0.0%
vas deferens 4.26% (15 of 352)
vascular system 0.0%
vesicular gland 0.0%
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 Lateral Orientation

11 Images

Adult LacZ

LacZ Images Section

37 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 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
Gait disturbance, Ataxia 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 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Hyperactivity, Impulsivity, Polymicrogyria, Lissencephaly, Aggressive be... OMIM:604317
Microcephaly 9, Primary, Autosomal Recessive
Simplified gyral pattern, Impulsivity, Aggressive behavior OMIM:614852
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Familial Alzheimer-Like Prion Disease
Depression, Anxiety, Attention deficit hyperactivity disorder, Emotional lability ORPHA:280397
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder OMIM:618185
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:300067
Lissencephaly 3
Ataxia, Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria OMIM:611603
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Anxiety, Difficulty walking, Attention deficit hyperactivity disorder OMIM:619191
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Inability to walk OMIM:618572
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Early-Onset Schizophrenia
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... ORPHA:96369
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Band Heterotopia
Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia OMIM:600348
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nail-biting, Lissenc... OMIM:619827
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Ataxia ORPHA:1314
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... ORPHA:3077
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Congenital Muscular Dystrophy Without Intellectual Disability
Difficulty walking, Gray matter heterotopia, Tip-toe gait, Pachygyria ORPHA:370980
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Intellectual Developmental Disorder, X-Linked 12
Depression, Anxiety, Abnormality of neuronal migration, Gait disturbance OMIM:300957
Fragile X Syndrome
Periventricular heterotopia, Hyperactivity, Self-biting OMIM:300624
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lissencephaly, Attention def... ORPHA:300573
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Hyperactivity, Self-mutilation, Low frustration tolerance, Aggressive behavior, Abnormali... ORPHA:163681
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Tetrasomy 18P
Gait disturbance, Abnormality of neuronal migration ORPHA:3307
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Polymicrogyria, Lissencephaly, Simplified gyral pattern,... OMIM:616212
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Attention deficit hyperactivity disorder OMIM:618974
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Impulsivity, Self-injurious behavior, Anxiety, Attention deficit hyp... OMIM:618929
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly ORPHA:89844
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Radio-Tartaglia Syndrome
Gait imbalance, Ataxia, Gray matter heterotopia, Impulsivity, Attention deficit hyperactivity dis... OMIM:619312
Acalvaria
Abnormality of neuronal migration ORPHA:945
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria ORPHA:101030
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Periventricular heterotopia, Self-injurious behavior, Aggressive behavior, Irritability OMIM:619833
Trichotillomania
Hair-pulling OMIM:613229
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:899
Joubert Syndrome
Gait disturbance, Ataxia, Abnormality of neuronal migration, Polymicrogyria ORPHA:475
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Pachygyria, Periventricular heterotopia ORPHA:255138
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Ataxia, Inability to walk OMIM:617563
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Coffin-Lowry Syndrome
Gait disturbance, Self-injurious behavior, Abnormality of neuronal migration ORPHA:192
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:603671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Polymicrogyria, Type II lissencephaly, Agyria, Lissencephaly, Pachygyria... OMIM:614643
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:35107
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Chiari Malformation Type Ii
Ataxia, Gray matter heterotopia OMIM:207950
Man1B1-Cdg
Broad-based gait, Periventricular heterotopia ORPHA:397941
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:2211
Koolen-De Vries Syndrome
Conspicuously happy disposition, Gray matter heterotopia, Hyperactivity, Impulsivity, Anxiety OMIM:610443
9Q21.13 Microdeletion Syndrome
Difficulty walking, Gray matter heterotopia ORPHA:531151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia OMIM:615287
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Periventricular Nodular Heterotopia 9
Broad-based gait, Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, A... OMIM:618918
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Self-injurious behavior ORPHA:261236
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Lissencephaly OMIM:615219
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Ataxia ORPHA:2318
Cerebrofacioarticular Syndrome
Ataxia, Gray matter heterotopia, Self-injurious behavior ORPHA:314679
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Gray matter heterotopia, Polymicrogyria ORPHA:370959
Familial Infantile Myoclonic Epilepsy
Gait disturbance, Periventricular nodular heterotopia, Ataxia ORPHA:352582
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Anxiety, Attention deficit hyperactivity disorder, Abnormality of neuronal migr... ORPHA:464311
Alg11-Cdg
Ataxia, Gray matter heterotopia ORPHA:280071
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:2671
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia, Attention deficit hyperactivity disorder OMIM:618870
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Periventricular heterotopia OMIM:618476
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Irritability, Hair-pulling ORPHA:447997
Van Maldergem Syndrome 1
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Choreoacanthocytosis
Apathy, Head-banging, Self-injurious behavior, Irritability, Loss of ambulation, Hyperactivity, D... ORPHA:2388
Joubert Syndrome With Hepatic Defect
Gait disturbance, Ataxia, Abnormality of neuronal migration ORPHA:1454
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Dysmetria, Polymicrogyria, Gait ataxia, Abn... ORPHA:75857
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Inability to walk ORPHA:26791
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Polymicrogyria OMIM:608836
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria ORPHA:2065
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:157
Orofaciodigital Syndrome Type 6
Gait disturbance, Ataxia, Abnormality of neuronal migration ORPHA:2754
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Loss of ambulation, Polymicrogyria, Unsteady gait OMIM:214100
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia OMIM:615546
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Self-injurious behavior, Polymicrogyria, Lissencephaly, Simplified g... ORPHA:468631
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
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:228308
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Miller-Dieker Lissencephaly Syndrome
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly OMIM:247200
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... ORPHA:98889
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria OMIM:619775
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Unsteady gait OMIM:618733
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Attention deficit hyperactivity disorder OMIM:305450
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Attention deficit hyperactivity disorder ORPHA:647
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Pachygyria, Gray matter heterotopia OMIM:620024
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Arima Syndrome
Ataxia, Gray matter heterotopia OMIM:243910
Monosomy 22Q13.3
Hyperactivity, Hair-pulling ORPHA:48652
Holoprosencephaly
Abnormality of neuronal migration ORPHA:2162
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Attention deficit hyperactivity disorder, Polymicrogyria OMIM:618820
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Vici Syndrome
Gray matter heterotopia OMIM:242840
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Inability to walk ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Inability to walk ORPHA:352665
Aicardi Syndrome
Pachygyria, Gray matter heterotopia, Polymicrogyria OMIM:304050
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:270400
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration OMIM:311200
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Holoprosencephaly 14
Periventricular heterotopia, Gray matter heterotopia OMIM:619895
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Gray matter heterotopia OMIM:210710
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter heterotopia OMIM:612289
Orofaciodigital Syndrome Xiv
Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria OMIM:615948
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration OMIM:236680
Mowat-Wilson Syndrome
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Periventricular heterotopia, Anxiety... ORPHA:2152
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Happy demeanor, Periventricular heterotopia, Inability to walk, Polymicrogyria ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Happy demeanor, Periventricular heterotopia, Inability to walk, Polymicrogyria ORPHA:261552
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Periventricular heterotopia OMIM:606170
Kallmann Syndrome
Gait disturbance, Ataxia 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.

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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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