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 circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... OMIM:619146
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Premature Ovarian Failure 16
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... OMIM:618723
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... 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
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... OMIM:618096
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:617690
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... OMIM:618187
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Premature Ovarian Failure 7
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612964
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Absence of pubertal development, Elevat... OMIM:273250
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Recurrent respiratory infections, T lymphocytopenia OMIM:233650
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... OMIM:617585
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infer... OMIM:617442
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections, Abnormal B cell count, Abnormal... OMIM:613495
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Immunodeficiency 19
Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, T ly... OMIM:615617
Immunodeficiency 50
Recurrent urinary tract infections, Recurrent respiratory infections, Neutropenia, Lymphopenia OMIM:300988
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia, Recurrent upper respirat... OMIM:618806
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
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Immunodeficiency 112
Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea... OMIM:620449
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Recurrent sinusitis, R... OMIM:615518
Immunodeficiency 104
Recurrent otitis media, Failure to thrive secondary to recurrent infections, Chronic mucocutaneou... OMIM:608971
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Elevated circulating fo... OMIM:400044
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Recurrent viral infections, Thrombocytopenia, Lymph... ORPHA:169079
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent ear infections, Increased propor... OMIM:615513
Immunodeficiency 52
Abnormal natural killer cell count, Recurrent infections, T lymphocytopenia, Recurrent pneumonia,... OMIM:617514
Reticular Dysgenesis
Sepsis, Congenital agranulocytosis, Hypoplasia of the thymus, Leukopenia, Lymphopenia OMIM:267500
Complete Androgen Insensitivity Syndrome
Delayed puberty, Male infertility, Abnormal circulating follicle-stimulating hormone concentratio... ORPHA:99429
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Pituitary growth hormone cell adenoma, Pituitary p... OMIM:102200
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp... ORPHA:231154
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphopenia, Recurrent b... OMIM:619164
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, ... OMIM:615615
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc... OMIM:312863
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Decreased circulating luteinizing hormone lev... OMIM:228300
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Recurrent infections, Recurrent respiratory infections, Reduced natur... OMIM:615214
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections, Abnormal T cell count OMIM:613494
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia OMIM:300299
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Neonatal sepsis, Decreased proportion of CD8-positive T cells, Recu... ORPHA:169154
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Partial Androgen Insensitivity Syndrome
Increased circulating antimullerian hormone concentration, Male infertility, Increased serum test... ORPHA:90797
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, B lymphocytopenia, Recurrent bacterial skin infections, Onychomycos... ORPHA:217390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Pancytopenia, B lym... OMIM:618986
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility, Delayed puberty, Absence of secondary sex characteristics, Abnormal circulat... ORPHA:90796
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent mycobacterium avium complex in... OMIM:614172
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrosterone-sulf... OMIM:250790
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Recurrent pneumonia, R... ORPHA:277
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Abnormal T cell co... OMIM:613493
Wiskott-Aldrich Syndrome 2
Recurrent infections, Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 68
Sepsis, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia, Abscess OMIM:612260
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Oligomenorrhea, P... OMIM:615300
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
46,Xx Sex Reversal 2
Azoospermia, Infertility, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:278850
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Lymphopenia, Recurrent bronchopulmonary infections, T lymphocytopenia, Recurrent viral ... OMIM:242700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, B lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:601457
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Abnormal natural killer cell count, Abnormal proportion of CD8-positive... OMIM:212050
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Increased circulating gonadotropin level, Cryptorchidism... OMIM:300869
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... ORPHA:300385
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Decreased testicular size, Elevated circulating follicle stimulating hormone leve... ORPHA:3044
46,Xx Sex Reversal 1
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:400045
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Decre... ORPHA:243
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Recurrent bronchitis, Autoimmune thrombocytopenia, Recurrent viral infect... OMIM:300853
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Recurrent candida infections, Recurrent Staphylococcus aureus infect... ORPHA:572
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Infertility, Primary amenorrhea, Decreased serum estradiol, Increased circulating g... ORPHA:168563
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Acromesomelic Dysplasia 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:609441
Adult Idiopathic Neutropenia
Recurrent infections, Helicobacter pylori infection, Lymphopenia, Monocytopenia, Monocytosis, Rec... ORPHA:2688
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Male infertility, Increased circulatin... ORPHA:251510
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:163971
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia ... OMIM:300400
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, T lymphocytopenia, Recurrent respiratory infections, Reduced... OMIM:618108
Pituitary Gigantism
Premature pubarche, Increased circulating prolactin concentration, Pituitary growth hormone cell ... ORPHA:99725
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Increased circulating gonado... ORPHA:755
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... ORPHA:168558
Immunodeficiency 102
Sepsis, Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Neutropenia in p... OMIM:301082
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulating progesterone, Seco... ORPHA:572333
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:91354
Frasier Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased serum estradiol, Increased circulat... ORPHA:347
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Cryptorchidism, Elevated circulating follicle stimulating hormone ... OMIM:620501
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... OMIM:619374
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Recurrent staphylococca... OMIM:607676
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent infections, B lymphocytopenia, Recurrent pneumonia, Abscess, ... OMIM:150550
Immunodeficiency 115 With Autoinflammation
Anemia, T lymphocytopenia, Decreased proportion of memory T cells, Recurrent viral infections, Sp... OMIM:620632
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal ovarian morphology, Abnormal circulating pregnenolone concentration, De... ORPHA:95699
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Abnormal B cell mo... OMIM:615607
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Decreased proportion of CD3-positive T cells, Abnormally low T ... ORPHA:276
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, T lymphocytopenia, Recurrent pneumonia... OMIM:610163
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
49,Xxxyy Syndrome
Increased circulating gonadotropin level, Abnormality of the testis size, Decreased testicular si... ORPHA:261534
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Recurrent bronchit... OMIM:607594
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Impotence, Abnormal prol... ORPHA:251937
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Decreased ma... ORPHA:95512
Panhypophysitis
Central diabetes insipidus, Abnormal thalamic MRI signal intensity, Reduced circulating prolactin... ORPHA:95513
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hyperhidrosis, Hypogonadis... ORPHA:91347
Pgm3-Cdg
Sepsis, Recurrent infections, Decreased proportion of CD3-positive T cells, Neutropenia in presen... ORPHA:443811
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocyt... ORPHA:35078
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Anemia, Recurrent respiratory infections, Pancytopenia, Abnormal nat... ORPHA:79124
49,Xyyyy Syndrome
Increased circulating gonadotropin level, Azoospermia, Abnormality of the testis size, Decreased ... ORPHA:99330
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... OMIM:600802
Disabling Pansclerotic Morphea Of Childhood
Recurrent infections, Neutropenia, Lymphopenia OMIM:620443
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased CD4:CD8 ratio, B lymphocytopenia... OMIM:606367
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Anterior hypopituit... ORPHA:2235
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
T-Cell Immunodeficiency With Thymic Aplasia
Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i... ORPHA:83471
47,Xyy Syndrome
Male infertility, Increased serum testosterone level, Azoospermia, Oligozoospermia, Increased cir... ORPHA:8
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... OMIM:610755
Mccune-Albright Syndrome
Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce... OMIM:174800
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Eosinophilic granuloma, T lymphocytopenia, Recu... OMIM:616433
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimulation test, Focal pancr... ORPHA:79644
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Recurrent lower respiratory tract infections, Abnormal natural killer cell mor... OMIM:615966
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Recurrent infections, Decrea... OMIM:613011
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Pituitary adenoma, Hyperhidrosi... OMIM:300942
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sepsis, Recurrent otitis media, Cutaneous abscess, Recurrent viral infections, Recurrent pneumoni... OMIM:243700
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Agammaglobulinemia, X-Linked
Sepsis, Recurrent otitis media, Pyoderma, Recurrent lower respiratory tract infections, Anemia, R... OMIM:300755
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... OMIM:602668
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618419
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio... ORPHA:90301
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Adenoma sebaceum, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary p... OMIM:131100
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,... ORPHA:91350
Vipoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Adrenocortical adenoma, Prima... ORPHA:97282
Ppoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Cholelithiasis, Adrenocortica... ORPHA:97278
Grfoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Cholelithiasis, Adrenocortica... ORPHA:97261
Somatostatinoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Adrenocortical adenoma, Prima... ORPHA:97283
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti... ORPHA:913
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... ORPHA:64739
Mccune-Albright Syndrome
Pancreatitis, Increased serum testosterone level, Macroorchidism, Abnormal testis morphology, Pre... ORPHA:562
Insulin-Like Growth Factor I Deficiency
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1 OMIM:608747
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... ORPHA:652
Immunodeficiency 22
Chronic oral candidiasis, Anemia, Recurrent lower respiratory tract infections, Decreased proport... OMIM:615758
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Absent testis, Decreased serum testos... ORPHA:325124
Glucagonoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Adrenocortical adenoma, Prima... ORPHA:97280
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Vici Syndrome
Chronic mucocutaneous candidiasis, T lymphocytopenia, Recurrent viral infections, Decreased propo... OMIM:242840
Bronchial Neuroendocrine Tumor
Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Increased circulati... ORPHA:97287
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, T lymphocytopenia, Recurrent sinusitis, Lymphopenia, Recurrent respirator... OMIM:607944
Carney Complex, Type 1
Thyroid carcinoma, Pheochromocytoma, Pituitary adenoma, Elevated circulating growth hormone conce... OMIM:160980
Ataxia-Telangiectasia
Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia of the thymus, T l... OMIM:208900
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Recurrent urinary tract infections, Recurren... OMIM:251260
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Impaired lymphocyte transformation w... OMIM:301000
Progeria-Short Stature-Pigmented Nevi Syndrome
Recurrent viral infections, Microcytic anemia, T lymphocytopenia ORPHA:2959
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Male infertility, Azoospermia, Ovarian serous cystadenoma, Bilateral cryptorchid... ORPHA:1772
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proportion of CD4-posi... ORPHA:508533
Somatomammotropinoma
Anterior hypopituitarism, Pituitary growth hormone cell adenoma, Impotence, Pituitary prolactin c... ORPHA:314769
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:99413
Turner Syndrome
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:99228
Monosomy X
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... ORPHA:99226
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Recurrent otitis media, Anemia, Recurrent infections, B lymphocytope... OMIM:619381
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular... ORPHA:249
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Acromegaly
Anterior hypopituitarism, Abnormality of the endocrine system, Pituitary growth hormone cell aden... ORPHA:963
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Abnormal B cell morphology, T lymphocytopenia OMIM:618223
Pachydermoperiostosis
Hyperhidrosis, Elevated circulating growth hormone concentration ORPHA:2796
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Decreased testi... 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.

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

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