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Gene: Ccdc88c MGI:1915589

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Gene Summary

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

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
abnormal auditory brainstem response Ccdc88ctm1.1(KOMP)Mbp HOM   Early adult 2.90×10-06
small testis Ccdc88ctm1.1(KOMP)Mbp HOM Early adult 0.00
abnormal testis morphology Ccdc88ctm1.1(KOMP)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 50% (1 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 50% (1 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 50% (1 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 50% (1 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 50% (1 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 50% (1 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
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)
Midbrain N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 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 50% (1 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 50% (1 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 50% (1 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 50% (1 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 50% (1 of 2)
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

67 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Hind Leg and Hip

8 Images

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X-ray

XRay Images Forepaw

8 Images

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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 Microlithiasis
Testicular microlithiasis OMIM:610441
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
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
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Pulmonary Blastoma
Weight loss ORPHA:64741
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... ORPHA:753
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Idiopathic Achalasia
Weight loss ORPHA:930
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Isaacs Syndrome
Weight loss ORPHA:84142
Chronic Hiccup
Weight loss ORPHA:396
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Mulibrey Nanism
Cachexia ORPHA:2576
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:617480
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Huntington Disease-Like 2
Weight loss ORPHA:98934
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Diabetes me... ORPHA:1215
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Focal Myositis
Weight loss ORPHA:48918
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Moynahan Syndrome
Cachexia ORPHA:2574
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Huntington Disease-Like 2
Weight loss OMIM:606438
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Low-set ears OMIM:601163
Central Diabetes Insipidus
Weight loss, Failure to thrive ORPHA:178029
Mast Cell Sarcoma
Weight loss ORPHA:66661
Reticular Dysgenesis
Weight loss, Failure to thrive ORPHA:33355
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Facial diplegia, Hypogonadism OMIM:160900
Perry Syndrome
Weight loss ORPHA:178509
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Hypercalcemia, Infantile, 1
Weight loss, Failure to thrive OMIM:143880
Follicular Lymphoma
Weight loss ORPHA:545
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Pleural Mesothelioma
Weight loss ORPHA:50251
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Liposarcoma
Weight loss ORPHA:69078
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Wolfram Syndrome 1
Optic atrophy, Hearing impairment, Sensorineural hearing impairment, Hypothyroidism, Testicular a... OMIM:222300
Cap Polyposis
Weight loss ORPHA:160148
Pfapa Syndrome
Weight loss ORPHA:42642
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Juvenile Huntington Disease
Weight loss ORPHA:248111
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Mogs-Cdg
Optic atrophy, External genital hypoplasia, Sensorineural hearing impairment, Absent brainstem au... ORPHA:79330
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cryptorchidism, Hearing impairment OMIM:193700
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Erectile dysfunction, EEG abnormality ORPHA:206448
Cockayne Syndrome Type 1
Optic atrophy, Male hypogonadism, Hearing impairment, Cryptorchidism, Abnormality of peripheral n... ORPHA:90321
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Osteosarcoma
Weight loss ORPHA:668
Thymic Carcinoma
Weight loss ORPHA:99868
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Cry... OMIM:609136
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Large earlobe, Decrease... OMIM:305400
Chronic Beryllium Disease
Weight loss ORPHA:133
Mcdonough Syndrome
Cachexia ORPHA:2471
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Graves Disease
Weight loss OMIM:275000
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Bone Dysplasia, Lethal Holmgren Type
Weight loss, Failure to thrive ORPHA:1842
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Huntington Disease
Weight loss, Decreased body mass index ORPHA:399
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Rhabdoid Tumor
Weight loss ORPHA:69077
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Nephroblastoma
Weight loss ORPHA:654
Immunodeficiency 27A
Weight loss OMIM:209950
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Cockayne Syndrome A
Irregular menstruation, Optic atrophy, Abnormal auditory evoked potentials, Hypogonadism, Decreas... OMIM:216400
Christianson Syndrome
Cachexia ORPHA:85278
Bullous Pemphigoid
Weight loss ORPHA:703
Huntington Disease-Like 1
Weight loss ORPHA:157941
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Sensorineural hearing impairment, Primary amenorrhea, Testicular atrophy, Premature ovarian insuf... OMIM:157640
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Absent gallbladder... ORPHA:171929
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Cerebrotendinous Xanthomatosis
Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Abnormal motor evoked potenti... ORPHA:909
Takayasu Arteritis
Weight loss ORPHA:3287
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive ORPHA:35710
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Cryptorc... OMIM:133540
Kaposi Sarcoma
Weight loss ORPHA:33276
Majeed Syndrome
Cachexia, Weight loss, Failure to thrive ORPHA:77297
Renpenning Syndrome
Cachexia ORPHA:3242
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Leishmaniasis
Weight loss ORPHA:507
X-Linked Agammaglobulinemia
Weight loss, Failure to thrive ORPHA:47
Wilson Disease
Increased body weight, Weight loss, Failure to thrive ORPHA:905
Polyarteritis Nodosa
Weight loss ORPHA:767
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Klatskin Tumor
Weight loss ORPHA:99978
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Rheumatoid Arthritis
Weight loss OMIM:180300
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Cryptorchidism ORPHA:401973
Fatal Familial Insomnia
Weight loss OMIM:600072
Yao Syndrome
Weight loss OMIM:617321
Tetrasomy 12P
Cachexia ORPHA:884
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Oromandibular Dystonia
Weight loss ORPHA:93958
Secondary Short Bowel Syndrome
Weight loss, Failure to thrive ORPHA:95427
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age ORPHA:424
Wolman Disease
Cachexia ORPHA:75233
Perry Syndrome
Weight loss OMIM:168605
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Congenital Tufting Enteropathy
Weight loss, Failure to thrive ORPHA:92050
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Neuroblastoma, Susceptibility To, 1
Weight loss, Failure to thrive OMIM:256700
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Igg4-Related Aortitis
Weight loss ORPHA:449400
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Loeffler Endocarditis
Weight loss ORPHA:75566
Ménétrier Disease
Weight loss ORPHA:2494
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
X-Linked Intellectual Disability, Snyder Type
Low-set ears, Abnormality of the Leydig cells, Cupped ear, Asymmetry of the ears, Cryptorchidism,... ORPHA:3063
Pemphigus Vulgaris
Weight loss ORPHA:704
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Pneumocystosis
Weight loss ORPHA:723
Pancreatoblastoma
Weight loss ORPHA:677
Gm1 Gangliosidosis
Weight loss, Failure to thrive ORPHA:354
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Aredyld Syndrome
Cachexia ORPHA:1133
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Imerslund-Gräsbeck Syndrome
Weight loss, Failure to thrive ORPHA:35858
Felty Syndrome
Weight loss ORPHA:47612
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive ORPHA:217346
Polymyositis
Weight loss ORPHA:732
Short Syndrome
Weight loss ORPHA:3163
Refractory Celiac Disease
Weight loss ORPHA:398063
Budd-Chiari Syndrome
Weight loss ORPHA:131
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Lymphoid Interstitial Pneumonia
Weight loss, Failure to thrive ORPHA:79128
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Primary Myelofibrosis
Cachexia ORPHA:824
Osteootohepatoenteric Syndrome
Weight loss, Failure to thrive OMIM:619377
Aicardi-Goutieres Syndrome 9
Weight loss, Failure to thrive OMIM:619487
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Acrodermatitis Enteropathica
Weight loss, Failure to thrive ORPHA:37
Familial Glucocorticoid Deficiency
Weight loss, Failure to thrive ORPHA:361
Celiac Disease, Susceptibility To, 1
Weight loss, Failure to thrive OMIM:212750
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity ORPHA:813
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Rett Syndrome
Cachexia OMIM:312750
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Late-Onset Isolated Acth Deficiency
Weight loss, Failure to thrive ORPHA:199299
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Giant Cell Arteritis
Weight loss ORPHA:397
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Weight loss OMIM:301310
Pyomyositis
Weight loss ORPHA:764
Thymoma
Weight loss ORPHA:99867
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity ORPHA:85293
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Adult-Onset Still Disease
Weight loss ORPHA:829
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Cystic Echinococcosis
Weight loss ORPHA:400
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Tropical Pancreatitis
Weight loss ORPHA:103918
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Failure to thrive ORPHA:1018
Amyotrophic Lateral Sclerosis
Cachexia ORPHA:803
Neuroblastoma
Weight loss ORPHA:635
Insulin-Resistance Syndrome Type B
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight ORPHA:2298
Poems Syndrome
Weight loss ORPHA:2905
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss ORPHA:20
Xfe Progeroid Syndrome
Cachexia, Failure to thrive OMIM:610965
Al Amyloidosis
Weight loss ORPHA:85443
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... ORPHA:273
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Whipple Disease
Cachexia ORPHA:3452
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Familial Thrombocytosis
Weight loss ORPHA:71493
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Lysosomal Acid Lipase Deficiency
Cachexia, Weight loss, Failure to thrive ORPHA:275761
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Polycythemia Vera
Weight loss ORPHA:729
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Caroli Disease
Weight loss ORPHA:53035
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Acute Adrenal Insufficiency
Weight loss, Failure to thrive ORPHA:95409
Castleman Disease
Weight loss ORPHA:160
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Failure to thrive ORPHA:99885
Q Fever
Weight loss ORPHA:781
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Malt Lymphoma
Weight loss ORPHA:52417
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Alveolar Echinococcosis
Weight loss ORPHA:284
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Erdheim-Chester Disease
Weight loss ORPHA:35687
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Riddle Syndrome
Weight loss ORPHA:420741
Seckel Syndrome
Cachexia ORPHA:808
Mucolipidosis Type Ii
Weight loss ORPHA:576
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Immunodeficiency 31C
Weight loss OMIM:614162
Multiple Myeloma
Weight loss ORPHA:29073
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Rat-Bite Fever
Weight loss ORPHA:31205
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Trisomy 18
Cachexia ORPHA:3380
Schwartz-Jampel Syndrome
Cachexia, Decreased body weight ORPHA:800
Reactive Arthritis
Weight loss ORPHA:29207
Congenital Fiber-Type Disproportion Myopathy
Weight loss, Failure to thrive ORPHA:2020
Addison Disease
Weight loss, Failure to thrive ORPHA:85138
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Aicardi-Goutieres Syndrome 7
Weight loss OMIM:615846
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss, Failure to thrive OMIM:219800
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Ppoma
Weight loss ORPHA:97278
Fanconi Anemia
Weight loss ORPHA:84
Brucellosis
Weight loss, Small for gestational age, Failure to thrive ORPHA:1304
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Somatostatinoma
Weight loss ORPHA:97283
Parathyroid Carcinoma
Weight loss ORPHA:143
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Vipoma
Weight loss ORPHA:97282
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Grfoma
Weight loss ORPHA:97261
Glucagonoma
Weight loss ORPHA:97280
Lynch Syndrome
Weight loss ORPHA:144
Postinfectious Vasculitis
Weight loss ORPHA:48435
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Behçet Disease
Weight loss ORPHA:117
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Nocardiosis
Weight loss ORPHA:31204
Nijmegen Breakage Syndrome
Cachexia ORPHA:647
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Cockayne Syndrome
Cachexia ORPHA:191
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Multiple Endocrine Neoplasia Type 1
Weight loss ORPHA:652
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Weight loss, Failure to thrive ORPHA:90794
Dermatomyositis
Weight loss ORPHA:221
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740
Systemic Lupus Erythematosus
Weight loss ORPHA:536
Camurati-Engelmann Disease
Slender build, Cachexia ORPHA:1328
Kikuchi-Fujimoto Disease
Weight loss ORPHA:50918
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Choreoacanthocytosis
Weight loss ORPHA:2388
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia ORPHA:2072
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity ORPHA:99889
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Sarcoidosis
Weight loss ORPHA:797
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
African Trypanosomiasis
Weight loss ORPHA:3385
Goodpasture Syndrome
Weight loss OMIM:233450
Proteus Syndrome
Cachexia ORPHA:744
Norrie Disease
Cachexia, Failure to thrive ORPHA:649
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Spinocerebellar Ataxia 40
OMIM:616053
Spinocerebellar Ataxia Type 40
ORPHA:423275

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 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
RGS12 polarizes the GPSM2-GNAI complex to organize and elongate stereocilia in sensory hair cells. Science advances (October 2022) Ccdc88ctm1(KOMP)Mbp PMC9581478
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
Planar cell polarity induces local microtubule bundling for coordinated ciliary beating. The Journal of cell biology (July 2021) Ccdc88ctm1(KOMP)Mbp 33929515
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

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
Ccdc88ctm439683(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ccdc88ctm1.1(KOMP)Mbp Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Ccdc88ctm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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