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Gene: Mrc1 MGI:97142

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
mannose receptor, C type 1
Synonyms:
CD206,  MR

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Mrc1 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 Mrc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Premature Ovarian Failure 17
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... OMIM:619146
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... OMIM:300511
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... OMIM:618086
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619834
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Immunodeficiency 18
Recurrent gastroenteritis, Lymphopenia, Recurrent otitis media, Decreased proportion of CD3-posit... OMIM:615615
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia OMIM:242870
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... OMIM:618096
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... OMIM:614324
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... OMIM:612964
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
46,Xy Sex Reversal 11
Primary amenorrhea, Elevated circulating luteinizing hormone level, Absence of pubertal developme... OMIM:273250
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... OMIM:240950
Ovarian Dysgenesis 4
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Primary ameno... OMIM:616185
Ovarian Dysgenesis 8
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618187
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia OMIM:233650
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
Myelolymphatic Insufficiency
Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Recurrent otitis media, Chroni... OMIM:618204
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Recurrent bacterial infections, Recurrent viral infections, Neutropenia, Recurrent f... OMIM:614868
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Female infertility, Amenorrhea, Oligomen... OMIM:617442
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Hyperprolactinemia
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Abnormal natural killer ce... OMIM:615617
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Recurrent upper respiratory tract infections, T lymphocytopenia, Abnormally low T cell receptor e... OMIM:618806
Immunodeficiency 50
Recurrent respiratory infections, Neutropenia, Lymphopenia, Recurrent urinary tract infections OMIM:300988
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300068
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Hypergonadotropic Hypogonadism-Cataract Syndrome
Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin... ORPHA:2410
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent streptococcus pneumoniae infections, Recur... ORPHA:70592
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Abnormality of the menstrual cycle, Elevated circulatin... OMIM:400044
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, Recurrent oti... OMIM:615518
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Immunodeficiency 104
Recurrent opportunistic infections, T lymphocytopenia, Chronic mucocutaneous candidiasis, Recurre... OMIM:608971
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Cd8 Deficiency, Familial
Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent viral infections, Recu... OMIM:608957
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent bacterial infections, Thromb... ORPHA:169079
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent ear infections, T lymphocytopenia, Increased proportion of transitional B cells, Recurr... OMIM:615513
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... OMIM:102200
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Sepsis OMIM:267500
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... ORPHA:99429
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Recurrent bronchiolitis, ... OMIM:619164
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... ORPHA:91348
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Recurrent bacterial i... OMIM:245480
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Non-Functioning Pituitary Adenoma
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... ORPHA:91349
Partial Androgen Insensitivity Syndrome
Increased serum estradiol, Abnormal circulating estrogen level, Increased serum testosterone leve... ORPHA:90797
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, ... ORPHA:169154
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD4-positive helper T cells, Decreased proportion o... OMIM:312863
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, T lymphocytopenia, B lymph... ORPHA:217390
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Recurrent bacterial infections, Thrombocytosis, Eosinophilia, M... OMIM:202700
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Recurrent respiratory infections, Recurrent infections, Neutro... OMIM:615214
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary gonadal insufficiency, Primary amenorrhea, Decreased fertility, Decreased fertility in fe... ORPHA:90796
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Neutropenia, Monocytopenia ORPHA:86788
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, M... ORPHA:163976
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Neutropenia, Monocytopenia, Impaired neutrophil chemotaxis, B lymp... OMIM:618986
Immunodeficiency 21
Anemia, Myeloid leukemia, Reduced natural killer cell count, Monocytopenia, B lymphocytopenia, Ne... OMIM:614172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Recurrent otitis media,... ORPHA:277
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... OMIM:212050
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Recurrent infections OMIM:614493
Immunodeficiency 68
Abnormal natural killer cell count, Sepsis, T lymphocytopenia, B lymphocytopenia, Abscess OMIM:612260
Perrault Syndrome 4
Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenorrhea,... OMIM:615300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, B lymphocytopenia, T lymphocytopenia, Failure to thrive secon... OMIM:601457
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Pyoderma, Recurrent bronchopulmonary infections, Lymphopenia, Hepatosplenomega... OMIM:242700
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Increased ci... OMIM:300869
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti... ORPHA:300385
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased testicular size, Type I diabetes mellitus, Breast aplasia, Elevated circulating luteini... ORPHA:3044
46,Xx Sex Reversal 1
Azoospermia, Elevated circulating follicle stimulating hormone level, Elevated circulating lutein... OMIM:400045
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Decreased serum estradiol, Infertility, Male hypogonadism, Increased circulat... ORPHA:168563
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... ORPHA:95619
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Neutropenia, Recurrent Staphylococcus aureus infections, Neutropenia in presen... ORPHA:572
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Decre... OMIM:300853
Acromesomelic Dysplasia 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:609441
46,Xy Partial Gonadal Dysgenesis
Primary gonadal insufficiency, Testicular gonadoblastoma, Primary amenorrhea, Decreased fertility... ORPHA:251510
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Abnorm... ORPHA:2688
46,Xx Gonadal Dysgenesis
Decreased fertility, Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insuffici... ORPHA:243
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Decreased testicular size, Male hypogonadism, Increased... ORPHA:163971
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Aarskog-Scott Syndrome
Bilateral cryptorchidism, Testicular atrophy, Delayed puberty, Elevated circulating luteinizing h... OMIM:305400
Pituitary Gigantism
Hyperhidrosis, Increased circulating prolactin concentration, Type II diabetes mellitus, Increase... ORPHA:99725
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Chronic oral candidiasis, Impaired lymphocyte transf... OMIM:300400
Leydig Cell Hypoplasia
Primary gonadal insufficiency, Female hypogonadism, Testicular gonadoblastoma, Primary amenorrhea... ORPHA:755
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Recurrent respiratory infections, B lymphoc... OMIM:618987
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased fertility, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level,... ORPHA:289548
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... ORPHA:91354
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased fertility, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level,... ORPHA:168558
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... OMIM:301082
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Recurr... OMIM:618108
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Streak ovary,... ORPHA:572333
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Central Precocious Puberty
Isosexual precocious puberty, Increased circulating gonadotropin level, Premature thelarche, Hypo... ORPHA:759
Frasier Syndrome
Decreased serum estradiol, Increased circulating gonadotropin level, Hypergonadotropic hypogonadi... ORPHA:347
Immunodeficiency 81
Impaired neutrophil chemotaxis, Abnormally low T cell receptor excision circle level, Decreased p... OMIM:619374
Prolactinoma
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... ORPHA:2965
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, B lymphocytopenia, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurre... OMIM:150550
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating dehydroepiandrosterone-sulfate concentration, Decreased circulating cortiso... ORPHA:95699
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced circulating prolactin concentration, Inappropriately normal thyroid-stimu... OMIM:300888
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Autoimmune hemolytic anemia, Eosinophilia, Recurrent cand... OMIM:610163
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... OMIM:619510
Immunodeficiency 17
T lymphocytopenia, Chronic oral candidiasis, Abnormal B cell morphology, Decreased proportion of ... OMIM:615607
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... ORPHA:276
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Male hy... ORPHA:261534
Gangliocytoma
Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Decreased female libido, Pituitary ... ORPHA:251937
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hype... ORPHA:300373
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... ORPHA:91347
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Recurrent sinusitis, Recurrent otitis media, Recurrent sinopul... OMIM:243700
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, Chronic oral candidiasis, T lymphocytopenia, B lymphocytopeni... ORPHA:35078
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Recurrent otitis media, Impaired lymphocyte transformation with p... OMIM:600802
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
Pgm3-Cdg
Recurrent fungal infections, Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Ne... ORPHA:443811
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Azoospe... ORPHA:99330
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent ear infections, Abnormal natural killer cell count, Anemia, T lymphocytopenia, Recurren... ORPHA:79124
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... ORPHA:91351
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Chronic oral candidiasis, T lymphocytopenia, Hemolytic anemia, B lymphoc... OMIM:606367
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... ORPHA:2235
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Primary amenorrhea, Decreased serum estradiol, Aplasia of the ovar... ORPHA:2232
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... OMIM:110100
Thymic Aplasia
Chronic oral candidiasis, T lymphocytopenia, Recurrent Staphylococcus aureus infections, Recurren... ORPHA:83471
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, Abnormal B cell... ORPHA:331206
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulating gonadotrop... ORPHA:8
Pituitary Apoplexy
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:95613
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcinoid tum... OMIM:610755
Mccune-Albright Syndrome
Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir... OMIM:174800
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, Recurrent lower respiratory tract infections, T lymphocy... OMIM:615966
Immunodeficiency 40
T lymphocytopenia, Chronic oral candidiasis, Eosinophilic granuloma, Recurrent otitis media, Recu... OMIM:616433
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Chromosome Xq26.3 Duplication Syndrome
Hyperhidrosis, Increased circulating prolactin concentration, Hypopituitarism, Pituitary adenoma,... OMIM:300942
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Isolated Splenogonadal Fusion
Testicular mass, Bilateral cryptorchidism, Hydrocele testis, Increased circulating gonadotropin l... ORPHA:457083
Multiple Endocrine Neoplasia, Type I
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... OMIM:131100
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recur... OMIM:613011
Myotonic Dystrophy 2
Type II diabetes mellitus, Elevated circulating follicle stimulating hormone level, Oligospermia,... OMIM:602668
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618419
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Agammaglobulinemia, X-Linked
Anemia, Enteroviral dermatomyositis syndrome, T lymphocytopenia, B lymphocytopenia, Recurrent uri... OMIM:300755
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess OMIM:613743
Non-Acquired Panhypopituitarism
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... ORPHA:90695
Ppoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97278
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante... ORPHA:91350
Vipoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97282
Grfoma
Increased circulating prolactin concentration, Neoplasm of the thymus, Parathyroid adenoma, Incre... ORPHA:97261
Somatostatinoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97283
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased glucagon le... ORPHA:913
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration OMIM:608747
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... ORPHA:64739
Mccune-Albright Syndrome
Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu... ORPHA:562
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ... ORPHA:652
X-Linked Lymphoproliferative Disease
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... ORPHA:2442
Immunodeficiency 22
Anemia, Chronic oral candidiasis, Recurrent upper respiratory tract infections, Decreased proport... OMIM:615758
Glucagonoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97280
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Chron... ORPHA:391487
Testicular Agenesis
Absent testis, Increased circulating gonadotropin level, Vanishing testis, Decreased serum testos... ORPHA:325124
Carney Complex, Type 1
Thyroid carcinoma, Pituitary adenoma, Pheochromocytoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Vici Syndrome
Leukopenia, T lymphocytopenia, Neutropenia, Chronic mucocutaneous candidiasis, Lymphopenia, Recur... OMIM:242840
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Neutropenia, Recurrent sinusitis, Recurrent otitis media, Lymphopenia, Autoimm... OMIM:607944
Bronchial Neuroendocrine Tumor
Increased circulating cortisol level, Increased circulating ACTH level, Increased serum serotonin... ORPHA:97287
Nijmegen Breakage Syndrome
T lymphocytopenia, B lymphocytopenia, Recurrent urinary tract infections, Recurrent bronchitis, R... OMIM:251260
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Recurrent bronchitis, Acute lymphoblastic leukemia, ... OMIM:208900
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Progeria-Short Stature-Pigmented Nevi Syndrome
Recurrent viral infections, T lymphocytopenia, Microcytic anemia ORPHA:2959
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Bilateral cryptorchidism, Azoospermia, Increased circulating gonadotropin level, ... ORPHA:1772
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... ORPHA:508533
Somatomammotropinoma
Hyperhidrosis, Increased circulating prolactin concentration, Impotence, Anterior hypopituitarism... ORPHA:314769
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hyperthyroidism, Increased circulating cortisol level, Thyroid car... ORPHA:249
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Hyperinsulinemia, Secondary amenorrhea, Premature ovarian insuff... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Hyperinsulinemia, Secondary amenorrhea, Premature ovarian insuff... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Hyperinsulinemia, Secondary amenorrhea, Premature ovarian insuff... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Hyperinsulinemia, Secondary amenorrhea, Premature ovarian insuff... ORPHA:99226
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Recurrent otitis... OMIM:619381
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... ORPHA:1359
Acromegaly
Hyperhidrosis, Impotence, Anterior hypopituitarism, Diabetes mellitus, Pituitary prolactin cell a... ORPHA:963
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology OMIM:618223
Duodenal Neuroendocrine Tumor
Increased circulating ACTH level, Insulinoma, Paraganglioma, Intestinal carcinoid, Glucagonoma, E... ORPHA:100076
Pachydermoperiostosis
Hyperhidrosis, Elevated circulating growth hormone concentration ORPHA:2796
Pmm2-Cdg
Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulating thyroid-sti... ORPHA:79318

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 Mrc1

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 Mrc1.

No publications found that use IMPC mice or data for Mrc1.

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MGI Allele Allele Type Produced
Mrc1tm39270(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mrc1em1(IMPC)Ics Deletion Mice

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