Gene: Mdc1 MGI:3525201

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Gene Summary

Name:
mediator of DNA damage checkpoint 1
Synonyms:
NFBD1

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.

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Viewing: all phenotypes

lacZ Expression

Expression data not available

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 Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Human diseases caused by Mdc1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mdc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Immunodeficiency 54
Chromosome breakage, Postnatal growth retardation, Adrenocorticotropic hormone excess, Reduced na... OMIM:609981
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Male hypogonadism, Bilateral breast hypoplasia, Azoospermia, Oli... ORPHA:52901
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Abnormality of chromosome stability,... OMIM:210900
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents, Bone marrow... OMIM:609054
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Decreased circulating antibody level, Testicular atrophy, Anemia, Short st... OMIM:618165
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia, Hepatic steatosis, Type II diabetes mellitus OMIM:615703
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
N Syndrome
Cryptorchidism, Leukemia, Abnormality of chromosome stability, Hypospadias OMIM:310465
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, Acute myeloid leukemia, Short stature, T-cel... OMIM:605724
Fanconi Anemia, Complementation Group Q
Growth delay, Biliary atresia, Short stature, Bone marrow hypocellularity, Chromosome breakage OMIM:615272
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability, Postnatal growth retardation, Intrauterine gro... OMIM:600546
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Growth delay, Hypogonadism, Hepatomegaly, Anemia, Splenomegaly, Decreas... OMIM:615234
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation, Growth delay, Short stature OMIM:613078
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Fanconi Anemia, Complementation Group A
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:227650
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Short stature, Postnatal growth retardation OMIM:616113
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Ataxia-Telangiectasia
Abnormality of chromosome stability, Abnormal testis morphology, Decreased circulating antibody l... ORPHA:100
Transcobalamin Deficiency
Abnormality of chromosome stability, Decreased circulating antibody level, Lymphopenia, Neutropen... ORPHA:859
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Bone marrow hypocellularity, Anemia, Intrauterine growth ret... OMIM:614083
Fanconi Anemia, Complementation Group S
Short stature, Chromosome breakage, Ovarian neoplasm, Anemia OMIM:617883
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Fanconi Anemia, Complementation Group E
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:600901
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Growth delay, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Fanconi Anemia, Complementation Group C
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:227645
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Growth delay, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocell... OMIM:613987
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Globozoospermia, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Myotonic Dystrophy 2
Oligospermia, Decreased circulating total IgM, Diabetes mellitus, Elevated circulating follicle s... OMIM:602668
Hemochromatosis, Type 2A
Infertility, Cirrhosis, Azoospermia, Amenorrhea, Hepatomegaly, Splenomegaly, Hypogonadotropic hyp... OMIM:602390
Fanconi Anemia, Complementation Group F
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Microphallus, Patent ductus ... OMIM:603467
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:227646
Androgen Insensitivity Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Abnormality of the uterus, Ambi... ORPHA:754
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Amenorrhea, Hepatocellular carcinoma, Impotence, Hepatomegaly, Testicular... OMIM:235200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents, Short stature OMIM:619060
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Hypothyroidism, Neutropenia, Short stature, ... OMIM:609053
Radial-Renal Syndrome
Chromosome breakage, Short stature OMIM:179280
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Shawl scrotum, Patent ... OMIM:617053
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Abnormality of chromosome stability, Decreased circulating IgA level, Leukemia, Abnormality of th... OMIM:208910
Lig4 Syndrome
Cryptorchidism, Abnormality of chromosome stability, Leukocytosis, Hypothyroidism, Growth delay, ... ORPHA:99812
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Increased circulating IgE level, Reduced sperm m... ORPHA:330015
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligospermia, Amenorrhea, Enlarged pituitary gland, Oligomenorrhea, Hypogonad... ORPHA:91351
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Aplastic anemia, Postnatal growth retardation OMIM:610832
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Short stature OMIM:278760
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Growth delay, Patent ductus ... OMIM:300514
Bloom Syndrome
Male infertility, Recurrent tonsillitis, Azoospermia, Oligospermia, Decreased circulating total I... ORPHA:125
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Cirrhosis, Amenorrhea, Erectile dysfunction, Hypothyroidism, Hepatocellular carcinom... ORPHA:465508
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Infertility, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Microvesicular hepatic steatosis, Postnatal growth retardation, Normochromic micr... OMIM:610198
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Polysplenia, Immotile sperm, Abnormal axonemal ... OMIM:613807
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypothyroidism, Growth delay, Reticulocytopenia, Anisopoikilocytosis, Hypogonadism, ... ORPHA:300298
Gapo Syndrome
Amenorrhea, Oligospermia, Growth delay, Short stature, Dysmenorrhea, Hypogonadism ORPHA:2067
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Wolfram Syndrome 1
Megaloblastic anemia, Hypothyroidism, Growth delay, Sideroblastic anemia, Thrombocytopenia, Testi... OMIM:222300
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Hepatic steatosis, Growth delay, Primary amenorrh... ORPHA:91
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Decreased circulating antibody l... ORPHA:2268
Riddle Syndrome
Generalized lymphadenopathy, Decreased circulating IgA level, Short stature, Chromosomal breakage... ORPHA:420741
8P11.2 Deletion Syndrome
Cryptorchidism, Hemolytic anemia, Azoospermia, Growth delay, Patent ductus arteriosus, Short stat... ORPHA:251066
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Disproportionate short stature, Oligospermia, Breast hypoplasia, Growth delay, Clitoral hypoplasi... OMIM:614813
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Short stature, Asplenia OMIM:602361
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Patent ductus arteriosus, Bicornuate uterus, Multilobul... OMIM:601186
De Sanctis-Cacchione Syndrome
Gonadal hypoplasia, Defective DNA repair after ultraviolet radiation damage, Severe short stature OMIM:278800
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Mild short stature, Bilateral cry... OMIM:305400
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Fanconi Anemia
Cryptorchidism, Patent ductus arteriosus, Bicornuate uterus, Leukopenia, Anemia, Abnormal preputi... ORPHA:84
Trichothiodystrophy
Cryptorchidism, Increased mean corpuscular hemoglobin concentration, Defective DNA repair after u... ORPHA:33364
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability OMIM:175800
Lesch-Nyhan Syndrome
Megaloblastic anemia, Testicular atrophy, Short stature OMIM:300322
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Pearson Syndrome
Reticulocytosis, Neutropenia, Pancreatic fibrosis, Postnatal growth retardation, Pancytopenia, An... ORPHA:699
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Ciliary Dyskinesia, Primary, 1
Male infertility, Asplenia, Abnormal respiratory motile cilium morphology OMIM:244400
Primary Ciliary Dyskinesia
Polysplenia, Female infertility, Abnormal sperm motility, Asplenia, Male infertility ORPHA:244
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Decreased circulating antibody level, Rhizomelia, Neutropeni... ORPHA:175
Tetrasomy 9P
Cryptorchidism, Infertility, Oligospermia, Biliary atresia, Jaundice, Intrauterine growth retarda... ORPHA:3310
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy, Short stature, Hypospadias ORPHA:3063
Nijmegen Breakage Syndrome
Hemolytic anemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Thrombocytope... ORPHA:647
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Cystinosis, Nephropathic
Male hypogonadism, Exocrine pancreatic insufficiency, Growth delay, Hepatomegaly, Delayed puberty... OMIM:219800
Noonan Syndrome 1
Cryptorchidism, Juvenile myelomonocytic leukemia, Patent ductus arteriosus, Postnatal growth reta... OMIM:163950
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Endometrial carcinoma, Impot... ORPHA:273
Cystic Fibrosis
Cirrhosis, Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatomegaly, Pancreatitis, Male... OMIM:219700

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 Mdc1

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 Mdc1.

No publications found that use IMPC mice or data for Mdc1.

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MGI Allele Allele Type Produced
Mdc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mdc1em1(IMPC)Bay Exon Deletion Mice

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