Gene Summary

Name:
staphylococcal nuclease and tudor domain containing 1
Synonyms:
p100 co-activator,  Tudor-SN

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal sternum morphology Snd1em1(IMPC)Tcp HOM Early adult 0.00
small uterus Snd1em1(IMPC)Tcp HET Late adult 0.00
enlarged urinary bladder Snd1em1(IMPC)Tcp HET Late adult 0.00
increased circulating alanine transaminase level Snd1em1(IMPC)Tcp HET Early adult 1.12×10-10
increased neutrophil cell number Snd1em1(IMPC)Tcp HET Early adult 2.09×10-13
decreased lymphocyte cell number Snd1em1(IMPC)Tcp HET Early adult 2.07×10-12
enlarged urinary bladder Snd1em1(IMPC)Tcp HET Early adult 0.00
small thymus Snd1em1(IMPC)Tcp HET Late adult 0.00
preweaning lethality, incomplete penetrance Snd1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal seminal vesicle morphology Snd1em1(IMPC)Tcp HET Late adult 0.00
abnormal sternum morphology Snd1em1(IMPC)Tcp HET Late adult 0.00
decreased spleen weight Snd1em1(IMPC)Tcp HET   Late adult 2.13×10-05

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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 Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Eye Morphology

Images Ophthalmoscopy

130 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Eye Morphology

Images Slit Lamp

43 Images

Gross Pathology and Tissue Collection

Images

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

Histopathology

Images

9 Images

Histopathology

Images

6 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Snd1 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 Snd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... ORPHA:2843
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... OMIM:614837
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Glomerulonephritis OMIM:247800
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Satoyoshi Syndrome
Abnormality of femur morphology, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormal hip ... ORPHA:3130
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Micropenis, Hypospadias, Vaginal neoplasm, Abnormality of the uterus, A... ORPHA:1916
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... OMIM:612964
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agenesis, Abnormal rib morphology, ... OMIM:601076
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Long thumb, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:619151
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary OMIM:300510
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Acromesomelic Dysplasia 3
Carpal synostosis, Aplasia of the proximal phalanx of the 2nd finger, Hypoplasia of the uterus, S... OMIM:609441
Trimethylaminuria
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly OMIM:602079
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Methylmalonic aciduria, Acute kidney injury, Pancytopenia, Thrombocytop... ORPHA:859
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Premature Ovarian Failure 6
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary... OMIM:619203
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Bifid scrotum, Micropenis, Hypoplasia of the vagina, Ovot... OMIM:278850
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary... OMIM:619665
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... OMIM:603552
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... OMIM:604250
Satoyoshi Syndrome
Hypoplasia of the uterus, Brachydactyly, Osteolytic defects of the phalanges of the hand, Genu va... OMIM:600705
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... OMIM:273250
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Short sternum OMIM:184800
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Seckel Syndrome 7
Hypoplasia of the uterus, Hip dysplasia, Clinodactyly, Abnormal carpal morphology OMIM:614851
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic an... OMIM:614470
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Micropenis, Hypergonadotropic hypogonadism, Hypospad... ORPHA:755
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Gracile Bone Dysplasia
Thin ribs, Micropenis, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic spleen, A... OMIM:602361
Kennerknecht syndrome
Hypoplasia of the uterus, Toe clinodactyly, Agonadism, Acetabular dysplasia, Toe syndactyly OMIM:600908
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the ovary, Hypoplasia of the uterus, Micropenis, Female hypogonadism, Hypogonadotro... ORPHA:432
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Müllerian Aplasia And Hyperandrogenism
Brachydactyly, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Immunodeficiency 95
Lymphopenia OMIM:619773
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemi... OMIM:617056
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... OMIM:619846
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Hypoplasia of the uterus, Breast hypoplasia, Increased circulati... ORPHA:785
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Hypoplasia of the uterus, Hypoplasia of the vagina, Long penis, Cong... OMIM:202010
Perrault Syndrome 4
Hypoplasia of the uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Bico... OMIM:615300
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Renal hypoplasia, Horseshoe k... OMIM:601186
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Unilateral renal agenesis, Elevated circulating luteinizing hormone lev... OMIM:618419
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni... ORPHA:90796
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Small scrotum, Bifid scrotum, Hypoplasia of the vagina, Cutaneous finge... OMIM:119500
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Atretic vas deferen... OMIM:137920
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... OMIM:266810
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Mirage Syndrome
Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Hypospadias, Leukopenia, Radial club... OMIM:617053
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, He... ORPHA:91547
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Aplasia of the ovary, Blind vagina, Micropenis, Bifid scrotum, Hypospad... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:99429
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophag... OMIM:619644
Immunodeficiency 44
Lymphopenia OMIM:616636
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomeru... OMIM:617575
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Coffin-Siris Syndrome 9
Short distal phalanx of finger, Hypoplasia of the uterus, Decreased response to growth hormone st... OMIM:615866
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Aplasia/Hypoplasia of th... OMIM:158330
Immunodeficiency 36
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... OMIM:616005
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... ORPHA:3226
Lumbar Syndrome
Micropenis, Bifid scrotum, Hypospadias, Bifid uterus, Bladder exstrophy, Ambiguous genitalia, Cry... ORPHA:83628
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenomegaly, Abnormal B ce... ORPHA:331206
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Anemia, Liver... ORPHA:54251
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Lissencephaly Syndrome, Norman-Roberts Type
Adducted thumb, Hypoplastic spleen, Rocker bottom foot ORPHA:89844
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... ORPHA:760
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... OMIM:241080
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular acidosis, ... OMIM:146255
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis OMIM:614204
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Abnormal circu... ORPHA:829
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1930
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Urethral atresia, Absent external genitalia, Thin ribs, Short ribs, Missing ribs, Hyd... OMIM:271520
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating gonadotropin level, Precocious puberty in females, Adrenocorticotropic horm... ORPHA:90793
Oeis Complex
Labial hypoplasia, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male,... OMIM:258040
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... OMIM:613179
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Streak ovary, Mi... ORPHA:3464
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Elevated circulating C-reactive protein concentrati... OMIM:617099
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly ORPHA:169160
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Horseshoe kidney,... OMIM:274000
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Hepatomegaly, Abnormally low T cell receptor ... ORPHA:276
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1302
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hypoplasia of penis, Hand oligodactyly, Hypopla... ORPHA:2879
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Per... OMIM:618935
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Polycystic kidne... ORPHA:2237
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Hepatoblastoma, Short 1st metacarpal, Splenopancreatic fusion, Broad ribs, Hypopla... OMIM:269150
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy OMIM:309801
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... ORPHA:168558
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... ORPHA:289548
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Aplasia of... ORPHA:3109
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypoplasia of the radius, Femoral bowing, Broad ribs, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, ... OMIM:612852
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Lymphopenia, Nephrotic range proteinuria, Nephropathy, Abnormal proportion of nai... ORPHA:1830
Staphylococcal Necrotizing Pneumonia
Leukopenia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:36238
Peters-Plus Syndrome
Clitoral hypoplasia, Biliary tract abnormality, Square pelvis bone, Hypoplastic labia majora, Hyp... OMIM:261540
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia OMIM:616100
Chromosome 17Q12 Deletion Syndrome
Long toe, Unilateral renal agenesis, Ovarian cyst, Multicystic kidney dysplasia, Upper limb under... OMIM:614527
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Lymphopenia, Thrombocytopenia, Pancytopenia, Focal segmental glomeruloscleros... OMIM:242900
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasia of the ra... OMIM:266910
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... OMIM:600802
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Hepatomegaly, Diffuse mesangial sclerosis, Splenomegaly, Aplasia of the thymus, Seve... OMIM:102700
Meckel Syndrome 14
Postaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Ambiguous genitalia, Polycystic ki... OMIM:619879
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating lute... ORPHA:572333
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Crossed fused renal ectopia OMIM:617466
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Thrombocytosis, A... OMIM:615934
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Anemia, Thrombocytopenia OMIM:617591
Familial Mediterranean Fever
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neutrophilia, Elevated... OMIM:249100
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... ORPHA:35078
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegal... OMIM:612541
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Peters Plus Syndrome
Short toe, Hypoplasia of the uterus, Clinodactyly of the 5th finger, Hypospadias, Multicystic kid... ORPHA:709
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:508542
Craniorachischisis
Bifid sternum ORPHA:63260
Sweet Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Sterile absces... ORPHA:3243
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Abnormal external genitalia, Sho... ORPHA:3404
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Proteinuria, Hypoplastic spleen, Pan... ORPHA:699
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Membranoproliferative glomerulonephritis, Hemolytic anemia, N... OMIM:615816
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
Townes-Brocks Syndrome 1
Bifid uterus, Rectoperineal fistula, 3-4 finger syndactyly, Rectovaginal fistula, Vesicoureteral ... OMIM:107480
Cardiac-Urogenital Syndrome
2-3 toe syndactyly, Micropenis, Bifid scrotum, Unilateral cryptorchidism, Accessory spleen, Hepat... OMIM:618280
Limb-Mammary Syndrome
Absent nipple, Clinodactyly of the 5th finger, Bilateral breast hypoplasia, 3-4 finger cutaneous ... ORPHA:69085
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, H... OMIM:615688
Fanconi Anemia, Complementation Group L
Absent thumb, Micropenis, Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Bon... OMIM:614083
Exstrophy-Epispadias Complex
Cystocele, Bifid scrotum, Abnormality of the ureter, Bifid uterus, Bladder exstrophy, Absent peni... ORPHA:322
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Premature f... ORPHA:90794
Ataxia-Telangiectasia
Lymphopenia, Elevated alpha-fetoprotein, Hypoplasia of the thymus, T lymphocytopenia, Acute lymph... OMIM:208900
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Nephropathy, Absent microvilli on the surface of peripheral blood lymp... OMIM:301000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Broad hallux, A... ORPHA:457284
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus, Accessory spleen, Proximal tibial hypoplas... OMIM:236680
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Unilateral brachydactyly, Bifid uterus, Syndactyly, Abnormal reproductive s... ORPHA:1521
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Uterine prolapse, Hyperextensibility of the finger joints, Tapered ... OMIM:303600
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Thrombocytopenia, Aplastic anemia, Lymphopenia OMIM:127550
Marburg Hemorrhagic Fever
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:99826
Wolf-Hirschhorn Syndrome
Rib fusion, Precocious puberty, Split hand, Hypospadias, Accessory spleen, Short hallux, Short th... OMIM:194190
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... ORPHA:284339
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Nephropathy, Hemolytic ane... ORPHA:906
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Nephropathy, Absent microvilli on the surface of peripheral blood lymphocytes, Decre... OMIM:600903
Hyper-Igd Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Hepatosplenomegaly, Elevated urin... OMIM:260920
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... ORPHA:391487
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Lymphopenia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Th... OMIM:619573
Syndromic Diarrhea
Lymphopenia, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume... ORPHA:84064
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Yellow Fever
Neutrophilia, Leukocytosis, Hyperbilirubinemia, Pancreatic hyperplasia, Elevated circulating crea... ORPHA:99829
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Decreased prealbumin level, Hypochole... ORPHA:90363
Common Variable Immunodeficiency
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly ORPHA:1572
Coffin-Siris Syndrome 1
Dislocated radial head, Clinodactyly of the 5th finger, Short sternum, Short distal phalanx of th... OMIM:135900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Cryptorchidism, Uterine rupture, Cystocele, Finger joint hypermobility, Foot ac... OMIM:130050
Neu-Laxova Syndrome 1
Bifid uterus, Camptodactyly, Clinodactyly, Rocker bottom foot, Radial deviation of finger, Calcan... OMIM:256520
Okamoto Syndrome
Splenomegaly, Bifid uterus, Polydactyly, Ureteropelvic junction obstruction, Hydronephrosis, Unil... ORPHA:2729
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Elevated circulating creatine... ORPHA:99827
Pallister-Killian Syndrome
Labial hypoplasia, Congenital hip dislocation, 11 pairs of ribs, Aplasia of the upper vagina, Hyp... OMIM:601803
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Bladder diverticulum, Uterine prolapse, Cystocele, Uterine rupture, Hypospadias, Congenital hip d... ORPHA:286
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649

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 Snd1

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 Snd1.

No publications found that use IMPC mice or data for Snd1.

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MGI Allele Allele Type Produced
Snd1em1(IMPC)Tcp Exon Deletion Mice, Tissue

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