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

IMPC Data Collections

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

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.

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 antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Recurrent respiratory infec... OMIM:615615
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Immunodeficiency 8
Recurrent respiratory infections, Lymphopenia OMIM:615401
Premature Ovarian Failure 6
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevate... OMIM:612310
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Decreased circulating follicle stimulating hormone concentration, Primary amenorrhea... OMIM:229070
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Premature Ovarian Failure 11
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomenorrhea OMIM:616946
Premature Ovarian Failure 7
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevate... OMIM:612964
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:273250
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia OMIM:233650
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618187
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Male hypogonadism, Hypogona... OMIM:240950
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Immunodeficiency 19
Recurrent respiratory infections, Recurrent otitis media, Lymphopenia OMIM:615617
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Decreased prop... OMIM:618204
Hyperprolactinemia
Menorrhagia, Infertility, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Neutrope... OMIM:614868
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 50
Neutropenia, Recurrent respiratory infections, Lymphopenia, Recurrent urinary tract infections OMIM:300988
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Abnormally low T cell receptor e... OMIM:618806
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Delayed puberty, Secondary growth hormone deficiency, Increased circulating g... ORPHA:2410
46,Xy Sex Reversal 1
Primary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:400044
Cernunnos-Xlf Deficiency
T lymphocytopenia, Recurrent viral infections, Recurrent bacterial infections, Thrombocytopenia, ... ORPHA:169079
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent strep... ORPHA:70592
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent infections OMIM:615214
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated circulating l... ORPHA:90793
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Recurrent opportunistic infections, Failure to thrive secondary ... OMIM:608971
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Abs... OMIM:608957
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Recurrent ear infections, Splenomegaly, Recurrent respiratory infections, Recu... OMIM:615513
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary prolactin cell ad... OMIM:102200
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Sepsis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... ORPHA:99429
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Splenomegaly, B lymphocytopenia, Recurrent bronchiolitis,... OMIM:619164
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Immunodeficiency 17
Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent respiratory infections, Recurrent ... OMIM:615607
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism OMIM:261550
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Recurrent bacterial infections... OMIM:245480
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612965
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Azoospermia, ... ORPHA:90797
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Recurrent upper respiratory tract infections, Decreased proporti... ORPHA:169154
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly 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
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in females, Primary gonadal insufficiency, Primary amenorrhea, Delayed pubert... ORPHA:90796
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Decreased serum testosterone concentration, Microcephaly, Absence of secondary se... ORPHA:163976
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurren... ORPHA:277
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Recurrent viral infections, Onychomycosis, Recurrent respiratory infections, R... ORPHA:217390
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Recurrent bacterial infect... OMIM:202700
X-Linked Severe Congenital Neutropenia
Neutropenia, Recurrent bacterial infections, Monocytopenia ORPHA:86788
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Recurrent opportunistic infections, B lymphocytopenia, Failure to thrive secon... OMIM:601457
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Recurrent otitis media, Leukopenia, Hepatosplenomegaly, Impaired... OMIM:618986
Wiskott-Aldrich Syndrome 2
Recurrent infections, Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, Sepsis, B lymphocytopenia, Abscess OMIM:612260
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Recurrent viral infe... ORPHA:572
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Eleva... ORPHA:3044
46,Xx Sex Reversal 1
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:400045
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Decreased serum testosterone concentration, Increased circulating gonadotropin le... OMIM:300869
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Panhypopituit... ORPHA:95619
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficie... OMIM:615300
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Decreased serum estradiol, Microcephaly, Secondary amenorrhea, Premature ovar... ORPHA:243
46,Xy Partial Gonadal Dysgenesis
Decreased fertility in females, Adrenal insufficiency, Primary gonadal insufficiency, Primary ame... ORPHA:251510
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Primary amenorrhea, Decreased serum testosterone concentration, Decreased serum estr... ORPHA:168563
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, B lymphocytopenia, Abnormally low T cell receptor excision circ... OMIM:618987
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Microcephaly, Absence of secondary se... ORPHA:163971
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Recurrent viral infections, Autoimmune thrombocytopenia, Decreased CD4:CD... OMIM:300853
Adult Idiopathic Neutropenia
Recurrent infections, Monocytosis, Helicobacter pylori infection, Recurrent bacterial infections,... ORPHA:2688
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased fertility, Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Agenesis ... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased fertility, Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Agenesis ... ORPHA:168558
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased serum testosterone conc... OMIM:305400
Pituitary Gigantism
Premature pubarche, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary prolactin... ORPHA:99725
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary gonadal insufficiency, Female hypogonadism, Primary amenor... ORPHA:755
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Polycystic ovaries, Elevated circulating... ORPHA:572333
Frasier Syndrome
Primary amenorrhea, Decreased serum estradiol, Increased circulating gonadotropin level, Hypergon... ORPHA:347
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Recurrent respiratory infections, B lymphocytopenia, Perianal abscess, Reduced... OMIM:618108
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Recurrent pneumonia, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Central Precocious Puberty
Premature thelarche, Hypothalamic hamartoma, Increased circulating gonadotropin level, Isosexual ... ORPHA:759
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... ORPHA:91354
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Panhypopituitarism, Reduced circulating prolactin concentr... OMIM:262600
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent herp... OMIM:610163
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Enlarged polycy... ORPHA:785
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618419
Immunodeficiency 81
Recurrent infections, Impaired neutrophil chemotaxis, Autoimmune hemolytic anemia, Abnormally low... OMIM:619374
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Adrenocorticotropin ... ORPHA:2965
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased proportion of CD3-positive T cells, Severe recur... ORPHA:276
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Decreased serum testosterone conce... ORPHA:261534
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:95699
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent infections, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... OMIM:150550
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Diabetes mellitus, Hypogon... OMIM:602668
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Hypothyroidism, Reduced circulating pro... OMIM:300888
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 22
Recurrent respiratory infections, Decreased proportion of CD4-positive helper T cells OMIM:615758
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Gangliocytoma
Adrenocorticotropic hormone excess, Decreased female libido, Pituitary null cell adenoma, Amenorr... ORPHA:251937
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased female libido, Amenorrhea, P... ORPHA:95512
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Recurrent viral infections, Recurrent ... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Recurrent pneumonia, Hepatosplenomegaly, Absent natural killer cells, Recurren... ORPHA:35078
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Absent n... OMIM:600802
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Leukopenia, Decreased proportion of CD3-pos... ORPHA:443811
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating luteinizing hormone level, Microcephaly, Elevated circul... OMIM:617253
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... ORPHA:2235
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... ORPHA:91351
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Recurrent abscess formation, T lymphocytopenia, Decreased proportion of memory B ce... ORPHA:79124
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Primary gonadal insufficiency, Infertility, Primary amenorrhea, Delayed pu... ORPHA:2232
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Recurrent viral infections, Decreased proportion of CD4+CD... OMIM:606367
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Pituitary Apoplexy
Central diabetes insipidus, Abnormal caudate nucleus morphology, Oligomenorrhea, Hypopituitarism,... ORPHA:95613
47,Xyy Syndrome
Cryptorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Macroorchidism, Ma... ORPHA:8
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Hashimoto thyroiditis, Parathyroid adenoma, Elevated circulating growth hormone c... OMIM:610755
Thymic Aplasia
Recurrent Staphylococcus aureus infections, T lymphocytopenia, Recurrent infections, Chronic oral... ORPHA:83471
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Recurrent viral i... ORPHA:331206
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Increased circulating prolact... OMIM:174800
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... OMIM:110100
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Abnormal response to glucagon stimulation test, Elevated ... ORPHA:79644
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Hypopituitarism, Elevated circulating growth hormon... OMIM:300942
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Macroorchidism, Elevated circulating growth hormone... ORPHA:85327
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Thyroid adenoma, Pituitary prolactin cell adenoma, Parathyroid adenoma, Elevate... OMIM:131100
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Agammaglobulinemia, X-Linked
T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Neutropenia... OMIM:300755
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovarie... ORPHA:90301
Lymphoproliferative Syndrome 1
Pancytopenia, Recurrent infections, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:613011
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Infertility, Delayed puberty, An... ORPHA:90695
Vipoma
Abnormality of the thyroid gland, Primary hyperparathyroidism, Parathyroid adenoma, Increased cir... ORPHA:97282
Ppoma
Cholelithiasis, Intestinal carcinoid, Abnormality of the thyroid gland, Primary hyperparathyroidi... ORPHA:97278
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Diabetes insipidus, Panhypopituitarism, Hypopituitarism, Anterior ... ORPHA:91350
Grfoma
Cholelithiasis, Intestinal carcinoid, Palmoplantar hyperhidrosis, Abnormality of the thyroid glan... ORPHA:97261
Somatostatinoma
Medullary thyroid carcinoma, Abnormality of the thyroid gland, Primary hyperparathyroidism, Parat... ORPHA:97283
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Hyperparathyroidism, Thyroid adenoma, Adrenocortical carcin... ORPHA:913
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Ovarian cyst, Enlarged polycystic o... ORPHA:64739
Mccune-Albright Syndrome
Abnormal endocrine physiology, Decreased fertility, Irregular menstruation, Goiter, Increased ser... ORPHA:562
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Abnormal circulating aldosterone, Pul... ORPHA:652
X-Linked Lymphoproliferative Disease
Pancytopenia, T lymphocytopenia, Hepatosplenomegaly, Histiocytosis, Absent natural killer cells, ... ORPHA:2442
Glucagonoma
Abnormality of the thyroid gland, Primary hyperparathyroidism, Parathyroid adenoma, Increased cir... ORPHA:97280
Carney Complex, Type 1
Thyroid follicular hyperplasia, Elevated circulating growth hormone concentration, Pheochromocyto... OMIM:160980
Wiskott-Aldrich Syndrome
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Recurrent upper respiratory tract infe... OMIM:301000
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Absent testis, Decreased serum testos... ORPHA:325124
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Septo-optic dysplasia, Agenesis ... ORPHA:95494
Nijmegen Breakage Syndrome
T lymphocytopenia, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent bronchitis, Recurr... OMIM:251260
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Recurrent otitis media, Autoimmune thrombocytopenia, Neutropenia, Recurrent si... OMIM:607944
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Ataxia-Telangiectasia
T lymphocytopenia, Leukemia, Decreased proportion of CD4-positive helper T cells, Recurrent bronc... OMIM:208900
Bronchial Neuroendocrine Tumor
Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Increased serum ser... ORPHA:97287
Van Esch-O'Driscoll Syndrome
Microcephaly, Cerebral atrophy, Increased circulating gonadotropin level OMIM:301030
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia, Recurrent viral infections ORPHA:2959
45,X/46,Xy Mixed Gonadal Dysgenesis
Unilateral cryptorchidism, Hypothyroidism, Chordee, Cryptorchidism, Azoospermia, Decreased serum ... ORPHA:1772
Somatomammotropinoma
Hypogonadotropic hypogonadism, Amenorrhea, Dysmenorrhea, Pituitary prolactin cell adenoma, Anteri... ORPHA:314769
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Recurrent pneumonia, Hypereosinophilia, Decreased proportion of CD4-positive h... ORPHA:508533
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Hyperthyroidism, Elevated circulating growth ... ORPHA:249
Turner Syndrome
Primary amenorrhea, Hyperinsulinemia, Hashimoto thyroiditis, Abnormality of the ovary, Secondary ... ORPHA:881
Mosaic Monosomy X
Primary amenorrhea, Hyperinsulinemia, Hashimoto thyroiditis, Abnormality of the ovary, Secondary ... ORPHA:99228
Turner Syndrome Due To Structural X Chromosome Anomalies
Primary amenorrhea, Hyperinsulinemia, Hashimoto thyroiditis, Abnormality of the ovary, Secondary ... ORPHA:99413
Monosomy X
Primary amenorrhea, Hyperinsulinemia, Hashimoto thyroiditis, Abnormality of the ovary, Secondary ... ORPHA:99226
Acromegaly
Hypogonadotropic hypogonadism, Dysmenorrhea, Pituitary prolactin cell adenoma, Anterior hypopitui... ORPHA:963
Carney Complex
Testicular adrenal rest tumor, Leydig cell neoplasia, Increased circulating prolactin concentrati... ORPHA:1359
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, T lymphocytopenia, Recurrent otitis media, Recurrent infections, Dec... OMIM:619381
Duodenal Neuroendocrine Tumor
Intestinal carcinoid, Paraganglioma, Elevated circulating growth hormone concentration, Insulinom... ORPHA:100076
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Pmm2-Cdg
Hypogonadotropic hypogonadism, Hyperinsulinemia, Elevated circulating growth hormone concentratio... 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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