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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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 Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Forepaw

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, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Intrauterine growth retardation, Chrom... OMIM:609981
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Bilateral cryptorchidism, Abnormality of male interna... OMIM:261550
Bloom Syndrome
Decreased fertility in females, Decreased circulating IgG level, Decreased circulating total IgM,... OMIM:210900
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Chromosomal breakage induced by crosslinking agents, Bone marrow hy... OMIM:609054
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Testicular atrophy, Anemia, Short stature, Pure red cell ap... OMIM:618165
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Morbid Obesity And Spermatogenic Failure
Infertility, Hepatic steatosis, Azoospermia, Oligospermia, Type II diabetes mellitus OMIM:615703
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
N Syndrome
Abnormality of chromosome stability, Leukemia, Hypospadias, Cryptorchidism OMIM:310465
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia, Postnatal growth retardation, Intrauterine gro... OMIM:600546
Fanconi Anemia, Complementation Group D1
Bone marrow hypocellularity, Intrauterine growth retardation, Chromosomal breakage induced by cro... OMIM:605724
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Growth delay, Hepatomegaly, Anemia, Decreased mean cor... OMIM:615234
Nijmegen Breakage Syndrome-Like Disorder
Short stature, Chromosomal breakage induced by ionizing radiation, Growth delay OMIM:613078
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Neut... OMIM:227650
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Hypogonadism, Short stature, Central hypothyroidism OMIM:616113
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Congenital macroorchidism, Macroorchidism, postpubertal OMIM:300624
Ataxia-Telangiectasia
Polycystic ovaries, Decreased circulating antibody level, Abnormality of chromosome stability, Sh... ORPHA:100
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Bone marrow hypocellularity, Micropenis, Chromosome breakage, Ab... OMIM:614083
Fanconi Anemia, Complementation Group S
Anemia, Short stature, Chromosome breakage, Ovarian neoplasm OMIM:617883
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Fanconi Anemia, Complementation Group E
Pancytopenia, Leukemia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Neut... OMIM:600901
Fanconi Anemia, Complementation Group G
Leukemia, Growth delay, Abnormality of chromosome stability, Neutropenia, Anemia, Thrombocytopenia OMIM:614082
Fanconi Anemia, Complementation Group C
Pancytopenia, Intrauterine growth retardation, Leukemia, Bone marrow hypocellularity, Cryptorchid... OMIM:227645
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Growth delay, Testicular atrophy, Cirrhosis, Thrombocy... OMIM:613987
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Chromosome breakage, Growth delay, Short stature, Biliary atresia OMIM:615272
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone level, Oligospe... ORPHA:8
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Oligospermia, Elevated circulat... OMIM:602668
Fanconi Anemia, Complementation Group F
Leukopenia, Intrauterine growth retardation, Patent ductus arteriosus, Bone marrow hypocellularit... OMIM:603467
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Leukemia, Patent ductus arteriosus, Bone marrow hypocellularity,... OMIM:227646
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia, Splenomegaly, Hepatomegaly, ... OMIM:602390
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Splenomegaly, Hepatomegaly, Testicular at... OMIM:235200
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
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
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Leukopenia, Intrauterine growth retardation, Patent du... OMIM:617053
Fanconi Anemia, Complementation Group I
Hypothyroidism, Intrauterine growth retardation, Bone marrow hypocellularity, Chromosomal breakag... OMIM:609053
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Abnormality of the thymus, Decreased circulating IgA level, Chromosome breakage, Abnorm... OMIM:208910
Radial-Renal Syndrome
Short stature, Chromosome breakage OMIM:179280
Lig4 Syndrome
Pancytopenia, Hypothyroidism, Leukocytosis, Cryptorchidism, Hypoplasia of penis, Growth delay, He... ORPHA:99812
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated circulating l... ORPHA:90793
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Xeroderma Pigmentosum, Complementation Group F
Short stature, Defective DNA repair after ultraviolet radiation damage OMIM:278760
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the lymph nodes, Hepatosplenomegaly, Hepatomegaly, Primary testicular failure, Oli... ORPHA:85450
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Chromosomal breakage induced by crosslinking agents, Aplastic anemia OMIM:610832
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Patent ductus arteriosus, Micropenis, Growth delay, Abnormality ... OMIM:300514
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating prolactin concent... ORPHA:91351
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... ORPHA:99429
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Intrauterine growth retardation... ORPHA:125
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Hepatomegaly, Jaundice, Secon... ORPHA:79239
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Decreased circulating osteocalci... ORPHA:330015
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypothyroidism, Hypogonadotropic hypogonadism, Portal hypertension, Amenorrhea, Erec... ORPHA:465508
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Intrauterine growth retardation, Normochromic microcytic anemia... OMIM:610198
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Fanconi Anemia, Complementation Group U
Chromosome breakage, Growth delay, Patent ductus arteriosus OMIM:617247
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Cryptorchidism, Azoosperm... ORPHA:432
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Polysplenia, Immoti... OMIM:613807
Generalized Glucocorticoid Resistance Syndrome
Infertility, Adrenal hyperplasia, Oligomenorrhea, Increased urinary cortisol level, Oligospermia,... ORPHA:786
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hepatosple... ORPHA:300298
Meningioma
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:2495
Wolfram Syndrome 1
Hypothyroidism, Sideroblastic anemia, Diabetes insipidus, Megaloblastic anemia, Growth delay, Tes... OMIM:222300
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Intrauterine growth retardation ORPHA:89844
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Growth delay, Oligospermia, Short stature, Hypogonadism ORPHA:2067
Icf Syndrome
Decreased circulating antibody level, Abnormality of chromosome stability, Anemia, Short stature,... ORPHA:2268
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... ORPHA:420741
Aromatase Deficiency
Hepatic steatosis, Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Growth delay,... ORPHA:91
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Gracile Bone Dysplasia
Micropenis, Short stature, Asplenia, Hypoplastic spleen OMIM:602361
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, E... ORPHA:1772
Microphthalmia, Syndromic 9
Hypoplastic spleen, Intrauterine growth retardation, Patent ductus arteriosus, Cryptorchidism, Sh... OMIM:601186
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Xfe Progeroid Syndrome
Severe short stature, Premature ovarian insufficiency, Defective DNA repair after ultraviolet rad... OMIM:610965
Trichothiodystrophy
Intrauterine growth retardation, Defective DNA repair after ultraviolet radiation damage, Cryptor... ORPHA:33364
Fanconi Anemia
Cryptorchidism, Decreased fertility in males, Abnormality of the uterus, Pyridoxine-responsive si... ORPHA:84
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
De Sanctis-Cacchione Syndrome
Severe short stature, Gonadal hypoplasia, Bilateral cryptorchidism, Defective DNA repair after ul... OMIM:278800
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Rhizomelia, Clitoral hypoplasia, Growth delay, Oligospermia, Diabetes mellitus, Breast hypoplasia OMIM:614813
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Ovarian carcinom... ORPHA:1359
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability OMIM:175800
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Pearson Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Hypothyroidism, Macronodular cirrhosis, Anemia, ... ORPHA:699
Lesch-Nyhan Syndrome
Megaloblastic anemia, Short stature, Testicular atrophy OMIM:300322
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Primary Ciliary Dyskinesia
Abnormal sperm motility, Male infertility, Asplenia, Female infertility, Polysplenia ORPHA:244
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Abdominal situs inversus, Male infertility OMIM:619607
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility, Asplenia OMIM:244400
Cartilage-Hair Hypoplasia
Abnormality of the pancreas, Rhizomelia, Decreased circulating antibody level, Hepatomegaly, Abno... ORPHA:175
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Tetrasomy 9P
Infertility, Absent gallbladder, Intrauterine growth retardation, Cryptorchidism, Micropenis, Jau... ORPHA:3310
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Abnormality of chromosome stability, Short stature, Hemolytic anemia... ORPHA:647
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy, Short stature, Hypospadias ORPHA:3063
Alström Syndrome
Hyoplasia of the Leydig cells, Irregular menstruation, Decreased fertility in males, Oligospermia... ORPHA:64
Noonan Syndrome 1
Patent ductus arteriosus, Cryptorchidism, Amegakaryocytic thrombocytopenia, Juvenile myelomonocyt... OMIM:163950
Steinert Myotonic Dystrophy
Cholelithiasis, Hyperinsulinemia, Abnormality of thyroid physiology, Decreased serum testosterone... ORPHA:273
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Primary hypothyroidism, Splenomegaly, Growth delay, Hepatomega... OMIM:219800
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatosplenomegaly, Hepatomegaly, Male infe... 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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Mdc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
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