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Gene: Blk MGI:88169

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Gene Summary

Name:
B lymphoid kinase
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small testis Blktm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Blktm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Hind Leg and Hip

9 Images

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Adult LacZ

LacZ Images Section

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

View images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young OMIM:613375
Mody
Abnormal circulating insulin concentration, Pancreatic hypoplasia, Insulin-resistant diabetes mel... ORPHA:552
Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Decreased circulating complement C4 concentration ORPHA:536

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir... OMIM:618944
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Increased circulating IgG level OMIM:618982
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Myeloma, Multiple
Paraproteinemia OMIM:254500
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ... OMIM:300400
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Abnor... OMIM:264600
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... ORPHA:753
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Abnormality of humoral immunity, Lack of T cell function ORPHA:277
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:617480
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... ORPHA:457083
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level OMIM:620532
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level OMIM:618523
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619752
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Immunodeficiency 114, Folate-Responsive
Increased circulating IgE level, Decreased circulating IgG level OMIM:620603
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre... ORPHA:169154
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... OMIM:615513
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:618394
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619510
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Decreased circulating IgA level, Decreased specific anti-polysac... OMIM:606367
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating total IgM OMIM:243700
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... OMIM:618534
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Abnormal circulating interleukin concentration, Bone marrow hypo... ORPHA:3261
Immunodeficiency 23
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level OMIM:615816
Aspergillosis
Increased circulating IgE level ORPHA:1163
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Decreased circulating IgA level, Decreased circulating IgG2 leve... OMIM:102700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level OMIM:304790
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449432
Immunodeficiency 22
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:615758
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Pgm3-Cdg
Bone marrow hypocellularity, Increased circulating IgE level, Increased circulating IgA level, Re... ORPHA:443811
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Increased circulating IgE level ORPHA:2314
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity ORPHA:330015
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Caffey Disease
Increased circulating antibody level ORPHA:1310
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level OMIM:614470
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Increased circulating IgE level, Increased circulating IgA level OMIM:620565
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Decreased circulating antibody level, Dysgammaglobulinemia, Redu... OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:169160
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... OMIM:301000
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Decreased circulating complement C4 concentration, Reduced ... OMIM:615559
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgA level... OMIM:612783
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... OMIM:300755
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Igg4-Related Kidney Disease
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449395
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level ORPHA:37042
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Activated Pi3K-Delta Syndrome
Increased circulating IgM level, Decreased circulating antibody level ORPHA:397596
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Proteasome-Associated Autoinflammatory Syndrome 2
Abnormal circulating IgM level, Increased circulating IgG level, Increased circulating IgA level OMIM:618048
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Trichinellosis
Increased circulating IgE level ORPHA:863
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:603909
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:276
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level OMIM:616005
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ... ORPHA:74
Tularemia
Increased circulating antibody level ORPHA:3392
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level ORPHA:449563
Leishmaniasis
Increased circulating antibody level ORPHA:507
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Prolidase Deficiency
Increased circulating antibody level OMIM:170100
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level OMIM:617099
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Pneumocystosis
Increased circulating antibody level ORPHA:723
Autoimmune Hepatitis
Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level OMIM:147060
Viss Syndrome
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level OMIM:619472
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Increased circulating IgA level OMIM:615934
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Lassa Fever
Increased circulating IgM level ORPHA:99824
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Increased circulating IgM level OMIM:617303
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Scleromyxedema
Paraproteinemia ORPHA:167635
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level OMIM:617591
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... ORPHA:273
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... OMIM:256040
Tick-Borne Encephalitis
Increased circulating IgG level, Increased circulating IgM level, Abnormal circulating cytokine c... ORPHA:297
Selective Igm Deficiency
Paraproteinemia, Decreased specific antibody response to vaccination, Decreased circulating total... ORPHA:331235
Hyper-Igd Syndrome
Increased circulating IgD level, Increased circulating IgA level OMIM:260920
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Increased circulating IgM level ORPHA:505248
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Q Fever
Cryoglobulinemia, Increased circulating antibody level ORPHA:781
Cysticercosis
Increased anti-parasite IgE antibody level, Increased circulating antibody level ORPHA:1560
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgG level, Increas... ORPHA:2298
Alveolar Echinococcosis
Increased circulating antibody level ORPHA:284
Postinfectious Vasculitis
Abnormality of humoral immunity, Increased circulating IgA level, Cryoglobulinemia, Increased cir... ORPHA:48435
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Primary Sjögren Syndrome
Reduced circulating complement concentration, Decreased circulating antibody level, Increased cir... ORPHA:289390
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Increased circulating IgM level ORPHA:79078
Gaucher Disease Type 3
Increased circulating antibody level ORPHA:77261
Lysinuric Protein Intolerance
Reduced circulating complement concentration, Abnormality of humoral immunity, Decreased circulat... ORPHA:470
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level OMIM:615846
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Gaucher Disease
Polyclonal elevation of IgM, Increased circulating antibody level ORPHA:355
Brucellosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:1304
Yellow Fever
Increased circulating interleukin 6 concentration, Increased circulating IgM level ORPHA:99829
Marburg Hemorrhagic Fever
Increased circulating antibody level ORPHA:99826
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level ORPHA:91500
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young OMIM:613375
Mody
Abnormal circulating insulin concentration, Pancreatic hypoplasia, Insulin-resistant diabetes mel... ORPHA:552
Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Decreased circulating complement C4 concentration ORPHA:536

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 Blk

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 Blk.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Blktm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Blktm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Blktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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