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Gene: Pms2 MGI:104288

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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:
PMS1 homolog2, mismatch repair system component
Synonyms:
DNA mismatch repair,  mismatch repair

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 Pms2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Pms2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Mismatch Repair Cancer Syndrome 4
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma OMIM:619101

The table below shows human diseases predicted to be associated to Pms2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
N Syndrome
Abnormality of chromosome stability, Hypospadias, Cryptorchidism, Neoplasm, Leukemia OMIM:310465
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Spermatogenic Failure 17
Male infertility OMIM:617214
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia OMIM:614082
Ataxia-Telangiectasia
Lymphopenia, Abnormality of chromosome stability, Diabetes mellitus, Polycystic ovaries, Decrease... ORPHA:100
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Mastocytosis, Sarcoma ORPHA:66661
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Anemia, S... ORPHA:296
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S... OMIM:278760
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Transcobalamin Deficiency
Lymphopenia, Abnormality of chromosome stability, Pancytopenia, Decreased circulating antibody le... ORPHA:859
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Decreased fert... OMIM:210900
Liposarcoma
Sarcoma ORPHA:69078
Lig4 Syndrome
Hypoplasia of penis, Abnormality of chromosome stability, Pancytopenia, Cryptorchidism, Leukocyto... ORPHA:99812
Xeroderma Pigmentosum, Complementation Group E
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defective DNA repair after u... OMIM:278740
Rhabdoid Tumor
Renal neoplasm, Thrombocytopenia, Neoplasm of the central nervous system, Neoplasm of the liver, ... ORPHA:69077
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... ORPHA:83469
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... ORPHA:2591
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Fanconi Anemia, Complementation Group O
Cryptorchidism, Chromosome breakage, External genital hypoplasia OMIM:613390
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... OMIM:227650
Fanconi Anemia, Complementation Group P
Pancytopenia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Squamous cell ... OMIM:613951
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Anemia... OMIM:616435
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:600901
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous cell carc... OMIM:278720
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Chromo... OMIM:605724
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Immunodeficiency 54
Chromosome breakage, Lymphoproliferative disorder, Splenomegaly, Adrenocorticotropic hormone exce... OMIM:609981
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor... ORPHA:85327
Fanconi Anemia, Complementation Group S
Chromosome breakage, Breast carcinoma, Ovarian neoplasm, Ovarian carcinoma, Anemia OMIM:617883
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Decreased fertility, Secondary amenorrhea, Ovarian ne... ORPHA:902
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Reticulocytopenia... OMIM:227645
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Cowden Syndrome 1
Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, ... OMIM:158350
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Squamous cell carcinoma OMIM:613736
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin, Defective DNA repair after ultraviolet radiation d... OMIM:278700
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Ambiguous ge... OMIM:610644
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal c... ORPHA:314478
Yellow Nail Syndrome
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Sarcoma ORPHA:662
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Pancreatic steatosis,... OMIM:617052
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Annular pancreas,... OMIM:227646
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Milroy Disease
Hydrocele testis, Neoplasm of the skin, Angiosarcoma ORPHA:79452
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Melanoma, Defective DNA repair after ultraviolet radiation damage, Gona... OMIM:278800
Fanconi Anemia, Complementation Group N
Aplastic anemia, Medulloblastoma, Neuroblastoma, Nephroblastoma, Chromosomal breakage induced by ... OMIM:610832
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Desmoid Tumor
Fibroma, Neoplasm of the skin, Desmoid tumors ORPHA:873
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, Squamous cell carcinoma, T lymphocytopenia, Squamous cell carcin... ORPHA:217390
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma ORPHA:44890
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Aplastic anemia, Hypogonadis... OMIM:300514
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Xeroderma Pigmentosum, Complementation Group D
Melanoma, Defective DNA repair after ultraviolet radiation damage OMIM:278730
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopenia, Anemia, ... OMIM:603467
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Decreased circulating antibody level, Fibroma, Hepatosplenomegaly OMIM:619750
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Trichothiodystrophy
Cryptorchidism, Increased mean corpuscular hemoglobin concentration, Defective DNA repair after u... ORPHA:33364
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Increased circulating IgE level, Imb... ORPHA:330015
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularit... OMIM:617243
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Decreased circulating antibody l... ORPHA:2268
Neurofibromatosis Type 1
Astrocytoma, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Chronic mye... ORPHA:636
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... OMIM:618165
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence, Testicula... OMIM:235200
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... OMIM:613254
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Hypospadias, Mye... ORPHA:84
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Monosomy 22
Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo... ORPHA:96123
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Meningioma
Decreased circulating cortisol level, Neoplasm of the anterior pituitary, Reduced circulating pro... ORPHA:2495
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Hypospadias, Myelody... OMIM:305000
Nijmegen Breakage Syndrome
Hemolytic anemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Glioma, B-cel... ORPHA:647
Pituitary Dermoid And Epidermoid Cysts
Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Defective DNA repair after ultraviolet radiation damage OMIM:610965
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellula... OMIM:614083
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Bone marrow hypocellularity, Neutropenia, ... OMIM:609053
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Bone marrow hypocellularity OMIM:615272
Bloom Syndrome
Male infertility, Acute myeloid leukemia, Malignant genitourinary tract tumor, Premature ovarian ... ORPHA:125
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ab... ORPHA:1359
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... OMIM:620133
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... ORPHA:276152
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:617244
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Gapo Syndrome
Dysmenorrhea, Oligozoospermia, Hypogonadism, Hemangioma, Amenorrhea ORPHA:2067
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Meige Disease
Angiosarcoma ORPHA:90186
Cowden Syndrome
Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Cavernous heman... ORPHA:201
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... ORPHA:786
Recessive Dystrophic Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Vaginal stricture, Anemia ORPHA:79409
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:99880
Lymphedema-Distichiasis Syndrome
Fibrosarcoma ORPHA:33001
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Splenomegaly, Infertility, Erec... ORPHA:465508
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Aicardi Syndrome
Precocious puberty, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangioma OMIM:304050
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:143
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Squamous cell carcinoma, Increased circulating IgG... OMIM:243700
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Esoph... ORPHA:1018
Revesz Syndrome
Abnormality of chromosome stability, Aplastic anemia, Bone marrow hypocellularity OMIM:268130
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Abnormality of chromosome stability, Anemia, Neutropenia ORPHA:175
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Aplastic anemia, Myelodysplasia, Cryptorchidism, Squamous cell c... ORPHA:221008
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Chromosomal breakage induced by... ORPHA:420741
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Coccidioidomycosis
Abnormal sperm morphology, Abscess, Eosinophilia, Abnormality of the endocrine system, Abnormalit... ORPHA:228123
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Basal cell ca... ORPHA:221016
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia OMIM:300322
Steinert Myotonic Dystrophy
Endometrial carcinoma, Brain neoplasm, Hypergonadotropic hypogonadism, Choroidal melanoma, Decrea... ORPHA:273
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Asplenia OMIM:244400
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Tetrasomy 9P
Cryptorchidism, Pilomatrixoma, Oligozoospermia, Infertility, Micropenis ORPHA:3310
Noonan Syndrome 1
Male infertility, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Hypospadias... OMIM:163950
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Ossifying fibroma, Granuloma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutane... ORPHA:363700
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Splenomegaly, Primary hypothyroidism, Delayed puberty, Male ... OMIM:219800
Cystic Fibrosis
Male infertility, Hepatosplenomegaly OMIM:219700
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular fibrosis, Irregular men... ORPHA:64
Mismatch Repair Cancer Syndrome 4
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma OMIM:619101

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 Pms2

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 Pms2.

No publications found that use IMPC mice or data for Pms2.

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
Pms2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pms2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pms2tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pms2em1(IMPC)Ccpcz Exon Deletion Mice

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