Gene Summary

Name:
coiled-coil domain containing 88C
Synonyms:
Daple,  0610010D24Rik

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
abnormal auditory brainstem response Ccdc88ctm1b(KOMP)Mbp HOM   Early adult 2.90×10-06
small testis Ccdc88ctm1b(KOMP)Mbp HOM Early adult 0.00
abnormal testis morphology Ccdc88ctm1b(KOMP)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 50% (1 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 50% (1 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 Not available
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
Diaphragm 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
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
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)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland 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)
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
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve 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 0.77% (4 of 517)
aorta 0.19% (1 of 522)
blood 0.0%
bone marrow 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cecum 3.37% (11 of 326)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
chest bone Unavailable
colon 10% (11 of 110)
diaphragm 0.0%
duodenum 1.87% (2 of 107)
epididymis 12.39% (14 of 113)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.2% (1 of 510)
hindlimb 0.0%
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
ileum 11.3% (13 of 115)
jejunum 3.81% (4 of 105)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.2% (1 of 512)
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
stomach pyloric region 0.0%
striatum 0.39% (2 of 510)
sublingual gland 0.0%
submandibular gland 0.85% (1 of 117)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
tongue 4.72% (5 of 106)
trachea 0.59% (3 of 510)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.48% (12 of 345)
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 Skull Dorso Ventral Orientation

8 Images

Adult LacZ

LacZ Images Section

67 Images

X-ray

XRay Images Hind Leg and Hip

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Human diseases caused by Ccdc88c 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 Ccdc88c by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Spinocerebellar Ataxia 40
OMIM:616053
Spinocerebellar Ataxia Type 40
ORPHA:423275

The table below shows human diseases predicted to be associated to Ccdc88c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testes, Rudimentary
Hypergonadotropic hypogonadism, Hypoplastic male external genitalia, Decreased testicular size OMIM:273150
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis, Congenital adrenal hypoplasia OMIM:202150
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Absence of puberta... OMIM:614840
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Cryptorchidism, Micropenis, Testicular dysgenesis, Ambiguous genitalia, Mic... OMIM:615542
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Tuberculosis
Weight loss ORPHA:3389
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Pulmonary Blastoma
Weight loss ORPHA:64741
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size OMIM:616030
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Idiopathic Achalasia
Weight loss ORPHA:930
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Infertility, Hypothyroidism, Cryptorchidism, Male pseudohermaphrod... ORPHA:752
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
46,Xy Sex Reversal 8
Cryptorchidism, Sex reversal, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Isaacs Syndrome
Weight loss ORPHA:84142
Mulibrey Nanism
Cachexia ORPHA:2576
Chronic Hiccup
Weight loss ORPHA:396
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Bilateral cr... ORPHA:457083
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:613662
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Huntington Disease-Like 2
Weight loss ORPHA:98934
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Diencephalic Syndrome
Decreased body weight, Cachexia ORPHA:1672
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Focal Myositis
Weight loss ORPHA:48918
Moynahan Syndrome
Cachexia ORPHA:2574
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Diabetes mellitus, Absent brainstem... ORPHA:1215
Huntington Disease-Like 2
Weight loss OMIM:606438
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Testicular Agenesis
Absent testis, Micropenis, Decreased serum testosterone concentration, Increased circulating gona... ORPHA:325124
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Testicular atrophy OMIM:601163
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Myotonic Dystrophy 1
Cholelithiasis, Facial diplegia, Hypogonadism, Testicular atrophy OMIM:160900
Hodgkin Lymphoma
Weight loss ORPHA:98293
Mast Cell Sarcoma
Weight loss ORPHA:66661
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Perry Syndrome
Weight loss ORPHA:178509
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Follicular Lymphoma
Weight loss ORPHA:545
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Liposarcoma
Weight loss ORPHA:69078
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cryptorchidism, Hearing impairment OMIM:193700
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Pfapa Syndrome
Weight loss ORPHA:42642
Juvenile Huntington Disease
Weight loss ORPHA:248111
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Cap Polyposis
Weight loss ORPHA:160148
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Sensorineural hearing impairment, Testicular atrophy, Diabete... OMIM:222300
Pleural Mesothelioma
Weight loss ORPHA:50251
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Bullous Pemphigoid
Weight loss ORPHA:703
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Adult Krabbe Disease
Erectile dysfunction, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Osteosarcoma
Weight loss ORPHA:668
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Mogs-Cdg
Hypothyroidism, Sensorineural hearing impairment, Inappropriate antidiuretic hormone secretion, E... ORPHA:79330
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Primary amenorrhea, Sensorineural hearing impairment, Testicular... OMIM:157640
Thymic Carcinoma
Weight loss ORPHA:99868
Cockayne Syndrome Type 1
Hearing impairment, Cryptorchidism, Male hypogonadism, Macrotia, Absent brainstem auditory respon... ORPHA:90321
Pemphigus Vulgaris
Weight loss ORPHA:704
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Aarskog-Scott Syndrome
Large earlobe, Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Dec... OMIM:305400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervo... OMIM:609136
Mcdonough Syndrome
Cachexia ORPHA:2471
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Rhabdoid Tumor
Weight loss ORPHA:69077
Desmoplastic Small Round Cell Tumor
Weight loss, Cachexia ORPHA:83469
Huntington Disease
Weight loss, Decreased body mass index ORPHA:399
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Weight loss, Cachexia, Slender build OMIM:603041
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Cachexia ORPHA:298
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Weight loss, Cachexia ORPHA:1979
Symptomatic Form Of Hemochromatosis Type 1
Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Nephroblastoma
Weight loss ORPHA:654
Immunodeficiency 27A
Weight loss OMIM:209950
Christianson Syndrome
Cachexia ORPHA:85278
Trisomy 10P
Rectovaginal fistula, Absent gallbladder, Low-set ears, EEG with burst suppression, Abnormal audi... ORPHA:171929
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Huntington Disease-Like 1
Weight loss ORPHA:157941
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
Chronic Beryllium Disease
Weight loss ORPHA:133
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Cockayne Syndrome A
Irregular menstruation, Cryptorchidism, Sensorineural hearing impairment, Micropenis, Decreased n... OMIM:216400
Takayasu Arteritis
Weight loss ORPHA:3287
Wilson Disease
Failure to thrive, Weight loss, Increased body weight ORPHA:905
Kaposi Sarcoma
Weight loss ORPHA:33276
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Polyarteritis Nodosa
Weight loss ORPHA:767
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Klatskin Tumor
Weight loss ORPHA:99978
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Renpenning Syndrome
Cachexia ORPHA:3242
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Majeed Syndrome
Failure to thrive, Weight loss, Cachexia ORPHA:77297
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Leishmaniasis
Weight loss ORPHA:507
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Rheumatoid Arthritis
Weight loss OMIM:180300
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Failure to thrive in infancy ORPHA:171876
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Yao Syndrome
Weight loss OMIM:617321
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Cholelithiasis, Hypothyroidism, Optic neuropathy,... ORPHA:909
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Cockayne Syndrome B
Cryptorchidism, Sensorineural hearing impairment, Micropenis, Decreased nerve conduction velocity... OMIM:133540
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Fatal Familial Insomnia
Weight loss OMIM:600072
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Tetrasomy 12P
Cachexia ORPHA:884
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Mend Syndrome
Abnormal auditory evoked potentials, Cryptorchidism, Low-set ears ORPHA:401973
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age ORPHA:424
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Oromandibular Dystonia
Weight loss ORPHA:93958
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Wolman Disease
Cachexia ORPHA:75233
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
X-Linked Intellectual Disability, Snyder Type
EEG abnormality, Cupped ear, Small earlobe, Low-set ears, Cryptorchidism, Asymmetry of the ears, ... ORPHA:3063
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Ménétrier Disease
Weight loss ORPHA:2494
Perry Syndrome
Weight loss OMIM:168605
Loeffler Endocarditis
Weight loss ORPHA:75566
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Igg4-Related Aortitis
Weight loss ORPHA:449400
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Gm1 Gangliosidosis
Failure to thrive, Weight loss ORPHA:354
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Aredyld Syndrome
Cachexia ORPHA:1133
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Short Syndrome
Weight loss ORPHA:3163
Felty Syndrome
Weight loss ORPHA:47612
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Pneumocystosis
Weight loss ORPHA:723
Polymyositis
Weight loss ORPHA:732
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Budd-Chiari Syndrome
Weight loss ORPHA:131
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Aicardi-Goutieres Syndrome 9
Failure to thrive, Weight loss OMIM:619487
Refractory Celiac Disease
Weight loss ORPHA:398063
Pancreatoblastoma
Weight loss ORPHA:677
Adrenocortical Carcinoma
Weight loss, Increased body weight ORPHA:1501
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss ORPHA:2126
Silver-Russell Syndrome
Cachexia, Obesity, Failure to thrive in infancy ORPHA:813
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Primary Myelofibrosis
Cachexia ORPHA:824
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:212750
Rett Syndrome
Cachexia OMIM:312750
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Thymoma
Weight loss ORPHA:99867
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Pyomyositis
Weight loss ORPHA:764
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Giant Cell Arteritis
Weight loss ORPHA:397
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Cystic Echinococcosis
Weight loss ORPHA:400
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss ORPHA:199299
Tropical Pancreatitis
Weight loss ORPHA:103918
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Poems Syndrome
Weight loss ORPHA:2905
Polycythemia Vera
Weight loss ORPHA:729
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Weight loss, Increased body weight, Decreased body weight ORPHA:2298
Steinert Myotonic Dystrophy
Cholelithiasis, Hyperinsulinemia, Abnormality of thyroid physiology, Decreased serum testosterone... ORPHA:273
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Malignant Atrophic Papulosis
Weight loss ORPHA:679
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Whipple Disease
Cachexia ORPHA:3452
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Lynch Syndrome
Weight loss ORPHA:144
Al Amyloidosis
Weight loss ORPHA:85443
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss ORPHA:20
Familial Thrombocytosis
Weight loss ORPHA:71493
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Caroli Disease
Weight loss ORPHA:53035
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Lysosomal Acid Lipase Deficiency
Failure to thrive, Weight loss, Cachexia ORPHA:275761
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Q Fever
Weight loss ORPHA:781
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Alveolar Echinococcosis
Weight loss ORPHA:284
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Castleman Disease
Weight loss ORPHA:160
Malt Lymphoma
Weight loss ORPHA:52417
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Seckel Syndrome
Cachexia ORPHA:808
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Jejunal Neuroendocrine Tumor
Weight loss ORPHA:100077
Riddle Syndrome
Weight loss ORPHA:420741
Erdheim-Chester Disease
Weight loss ORPHA:35687
Mucolipidosis Type Ii
Weight loss ORPHA:576
Reactive Arthritis
Weight loss ORPHA:29207
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Failure to thrive in infancy ORPHA:37042
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Rat-Bite Fever
Weight loss ORPHA:31205
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Multiple Myeloma
Weight loss ORPHA:29073
Microsporidiosis
Weight loss, Cachexia ORPHA:2552
Trisomy 18
Cachexia ORPHA:3380
Ppoma
Weight loss ORPHA:97278
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Schwartz-Jampel Syndrome
Decreased body weight, Cachexia ORPHA:800
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Somatostatinoma
Weight loss ORPHA:97283
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Vipoma
Weight loss ORPHA:97282
Grfoma
Weight loss ORPHA:97261
Brucellosis
Failure to thrive, Weight loss, Small for gestational age ORPHA:1304
Fanconi Anemia
Weight loss ORPHA:84
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Glucagonoma
Weight loss ORPHA:97280
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Parathyroid Carcinoma
Weight loss ORPHA:143
Cystinosis, Nephropathic
Weight loss, Failure to thrive in infancy OMIM:219800
Hepatocellular Carcinoma
Weight loss ORPHA:88673
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Postinfectious Vasculitis
Weight loss ORPHA:48435
Behçet Disease
Weight loss ORPHA:117
Dermatomyositis
Weight loss ORPHA:221
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Nijmegen Breakage Syndrome
Cachexia ORPHA:647
Nocardiosis
Weight loss ORPHA:31204
Marfan Syndrome
Cachexia, Slender build ORPHA:558
Cockayne Syndrome
Cachexia ORPHA:191
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Multiple Endocrine Neoplasia Type 1
Weight loss ORPHA:652
Camurati-Engelmann Disease
Cachexia, Slender build ORPHA:1328
Kikuchi-Fujimoto Disease
Weight loss ORPHA:50918
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia ORPHA:2072
Stickler Syndrome
Cachexia, Slender build ORPHA:828
Cushing Syndrome Due To Ectopic Acth Secretion
Weight loss, Increased body weight, Abdominal obesity, Truncal obesity ORPHA:99889
African Trypanosomiasis
Weight loss ORPHA:3385
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Choreoacanthocytosis
Weight loss ORPHA:2388
Sarcoidosis
Weight loss ORPHA:797
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Proteus Syndrome
Cachexia ORPHA:744
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Goodpasture Syndrome
Weight loss OMIM:233450
Norrie Disease
Failure to thrive, Cachexia ORPHA:649
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Spinocerebellar Ataxia Type 40
ORPHA:423275
Spinocerebellar Ataxia 40
OMIM:616053

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 Ccdc88c

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 Ccdc88c.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Daple deficiency causes hearing loss in adult mice by inducing defects in cochlear stereocilia and apical microtubules. Scientific reports (October 2021) Ccdc88ctm1(KOMP)Mbp PMC8511111
EMX2-GPR156-Gαi reverses hair cell orientation in mechanosensory epithelia. Nature communications (May 2021) Ccdc88ctm1.1(KOMP)Mbp PMC8129141
Cytoplasmic Dynein Functions in Planar Polarization of Basal Bodies within Ciliated Cells. iScience (June 2020) Ccdc88ctm1(KOMP)Mbp PMC7300155
Daple coordinates organ-wide and cell-intrinsic polarity to pattern inner-ear hair bundles. Proceedings of the National Academy of Sciences of the United States of America (December 2017) Ccdc88ctm1(KOMP)Mbp Ccdc88ctm1.1(KOMP)Mbp PMC5748220
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Ccdc88ctm1b(KOMP)Mbp PMC5638796
Daple Coordinates Planar Polarized Microtubule Dynamics in Ependymal Cells and Contributes to Hydrocephalus. Cell reports (July 2017) Ccdc88ctm1(KOMP)Mbp 28746879

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MGI Allele Allele Type Produced
Ccdc88ctm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Ccdc88ctm439683(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ccdc88ctm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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