Gene Summary

Name:
NUT midline carcinoma, family member 1
Synonyms:
Nut,  BC125332

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
male infertility Nutm1tm1b(KOMP)Wtsi HOM Early adult 0.00
increased lean body mass Nutm1tm1b(KOMP)Wtsi HOM Early adult 3.35×10-08
decreased total body fat amount Nutm1tm1b(KOMP)Wtsi HOM Early adult 2.50×10-06
increased mean corpuscular hemoglobin Nutm1tm1b(KOMP)Wtsi HOM Early adult 1.42×10-06
decreased circulating serum albumin level Nutm1tm1b(KOMP)Wtsi HOM Early adult 1.55×10-06
increased red blood cell distribution width Nutm1tm1b(KOMP)Wtsi HOM Early adult 1.28×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Legacy Phenotype Associated Images

Human diseases caused by Nutm1 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 Nutm1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nut Midline Carcinoma
Leukemia ORPHA:443167

The table below shows human diseases predicted to be associated to Nutm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
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, 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 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Young Syndrome
Azoospermia OMIM:279000
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy, Hypoalbumine... OMIM:616000
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Weight loss, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, ... OMIM:209950
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... OMIM:240950
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Leishmaniasis
Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypoal... ORPHA:507
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Chylomicron Retention Disease
Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemi... OMIM:246700
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia OMIM:618805
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Thrombocytopenia, Hypoalbuminemia, Failure to thrive, Anemia OMIM:608104
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circula... ORPHA:103910
Eosinophilic Gastroenteritis
Leukocytosis, Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia... ORPHA:2070
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Cryptorchidism, Ambiguous genitalia, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Failure to thrive OMIM:617156
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Microcytic anemia OMIM:619013
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Failure to thrive, Pyrimidin... OMIM:258900
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p... OMIM:264300
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
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
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Decrease... ORPHA:280679
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Primary gonadal insufficiency ORPHA:99329
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Acute myeloid leukemi... ORPHA:86839
49,Xyyyy Syndrome
Male hypogonadism, Azoospermia, Increased circulating gonadotropin level, Abnormality of the test... ORPHA:99330
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Hypoalbuminemia, Ane... ORPHA:292
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypogonadism, Hypoalbuminemia, Lymphopenia OMIM:617575
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased testicular size, Azoospermia, Decreased response to gro... OMIM:300845
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231226
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Hypog... ORPHA:848
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Failure to thrive OMIM:602579
48,Xxyy Syndrome
Cryptorchidism, Infertility, Azoospermia, Hypergonadotropic hypogonadism, Type II diabetes mellit... ORPHA:10
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Failure to thrive, Decre... OMIM:618278
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... ORPHA:540
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia OMIM:226300
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyponatremia, Neutropenia, Decreased b... ORPHA:1667
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Weight loss, Hypoalbuminemia,... ORPHA:90362
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Abnormal circulating follicle-sti... ORPHA:99429
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Acute hyperammonemia, Hypertrig... ORPHA:247585
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Hypoalbuminemia, Failure to thrive, Splenomegaly OMIM:251880
Avian Influenza
Lymphopenia, Thrombocytopenia, Hypoalbuminemia, Leukopenia, Elevated circulating C-reactive prote... ORPHA:454836
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypergonadotropic hypogonadism, Abnormal subcutaneous fat tissue distribution, Fl... OMIM:212065
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Neutropenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Anemia, Leukop... OMIM:617303
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Weight loss, Hypoalbuminemia, Anemia ORPHA:67
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Al Amyloidosis
Autonomic erectile dysfunction, Weight loss, Increased circulating NT-proBNP concentration, Hypoa... ORPHA:85443
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Atypical scarring of skin, Flexion contracture, Decreased body weight... ORPHA:89842
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Hepatosplenomegaly, Hypoalbuminemia, Failure to thrive ORPHA:367
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Cellulitis, Elevated circulating creatinine concentration, Increased circulating me... ORPHA:36234
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus... ORPHA:300298
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Increased ... ORPHA:79277
Abetalipoproteinemia
Hypotriglyceridemia, Reticulocytosis, Hyperbilirubinemia, Hypocholesterolemia, Decreased LDL chol... ORPHA:14
48,Xxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas... ORPHA:96263
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Atrophic scars, Scarring, Hypoalbuminemia, Anemia, Failure to thrive ORPHA:79396
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
49,Xxxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas... ORPHA:96264
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Male infertility, Congenital hypoparathyroidism ORPHA:2239
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Hypocalcemia, Pancytopenia, Inguinal hernia, Hypoalbuminemia, Anemia, Failure to t... OMIM:613658
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean platelet volu... OMIM:222470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Thrombocytopenia, Hernia, Hypoalbuminemia, Anemia, Leukopenia, Hepatosplenom... ORPHA:505248
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Cachexia, Hypoalbuminemia, Anemia, Refractory anemia ORPHA:79076
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Type II diabetes mellitus OMIM:210900
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Abnormal circulating lipid concentration, Weight loss, Decreased body weight... ORPHA:2298
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypogonadism, Ab... ORPHA:251066
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Small for gestational age, Hypoalbuminemia, F... OMIM:619055
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Weight loss, Thrombocytopenia, Hy... ORPHA:88673
Galloway-Mowat Syndrome 3
Hiatus hernia, Camptodactyly, Hypoalbuminemia, Failure to thrive OMIM:617729
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Decreased mean corpuscular volume, ... ORPHA:231222
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Camptodactyly, Hypoalbuminemia, Umbilical hernia OMIM:235510
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
H Syndrome
Azoospermia, Amenorrhea, Delayed puberty, Decreased testicular size, Hypogonadism, Diabetes melli... ORPHA:168569
Galloway-Mowat Syndrome 1
Hiatus hernia, Camptodactyly, Small for gestational age, Hypoalbuminemia, Joint contracture of th... OMIM:251300
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Abnormal s... ORPHA:330015
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, HbH hemoglobin, Failure to thrive, Microcytic anemia ORPHA:98791
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration ORPHA:186
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru... ORPHA:465508
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Beta-Thalassemia Major
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231214
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Hypoalbuminemia, Weight loss, Splenomegaly ORPHA:171
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, S... OMIM:227650
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Pancreatic hypoplasia, Type I diabetes mellitus, Mic... OMIM:602782
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Bloom Syndrome
Azoospermia, Oligospermia, Diabetes mellitus, Male infertility, Premature ovarian insufficiency ORPHA:125
Fanconi Anemia
Cryptorchidism, Abnormality of the uterus, Azoospermia, Absent testis, Abnormality of the hypotha... ORPHA:84
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Obesity OMIM:141750
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal respiratory motile cilium morphology OMIM:244400
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Tropical Endomyocardial Fibrosis
Cachexia, Hypoalbuminemia, Eosinophilia, Splenomegaly ORPHA:75565
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Umbilical hernia OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Abnormal hemoglobin, Anemia ORPHA:847
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Azoospermia, Abnormal calcium-phosphate regulating hormone level, Hyperaldosteron... ORPHA:534
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Azoospermia, Cholelithiasis ORPHA:2072
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Pmm2-Cdg
Abnormal subcutaneous fat tissue distribution, Lipodystrophy, Impaired neutrophil chemotaxis, Mul... ORPHA:79318
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Endometrial carcinoma, Impot... ORPHA:273
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Cystinosis, Nephropathic
Decreased plasma carnitine, Male hypogonadism, Hypophosphatemic rickets, Hyponatremia, Failure to... OMIM:219800
Noonan Syndrome 1
Cryptorchidism, Hypogonadism, Male infertility, Hypospadias OMIM:163950
Cystic Fibrosis
Male infertility OMIM:219700
Nut Midline Carcinoma
Leukemia ORPHA:443167

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 Nutm1

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 Nutm1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Nutm1tm1b(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Nutm1tm1b(KOMP)Wtsi