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:
mismatch repair,  DNA mismatch repair

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 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.

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
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sperm morpholog... ORPHA:399808
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage, Neoplasm of the skin OMIM:194400
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
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
N Syndrome
Cryptorchidism, Abnormality of chromosome stability, Neoplasm, Hypospadias, Leukemia OMIM:310465
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Mast Cell Sarcoma
Hepatomegaly, Mastocytosis, Sarcoma, Splenomegaly ORPHA:66661
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Non-obstructive azoospermia, Obstructive azoospermia, Decreased testicular size, Abn... ORPHA:399805
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Anemia, Visceral angiom... ORPHA:296
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Mul... ORPHA:163634
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Abnormality of chromosome stability,... OMIM:210900
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia OMIM:615703
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Neoplasm of the skin, Seborrheic keratosis OMIM:278760
Fanconi Anemia, Complementation Group G
Myelodysplasia, Abnormality of chromosome stability, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, D... ORPHA:320391
Ataxia-Telangiectasia
Abnormality of chromosome stability, Abnormal testis morphology, Decreased circulating antibody l... ORPHA:100
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Defective DNA repair after ultraviolet radiation damage, Squamous cell carc... OMIM:278740
Liposarcoma
Sarcoma ORPHA:69078
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Thrombocytopenia, ... ORPHA:69077
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Neoplasm of the skin ORPHA:626
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Hepatomegaly, Sarcoma, Anemia, Neoplasm... ORPHA:83469
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Fanconi Anemia, Complementation Group A
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:227650
Infantile Myofibromatosis
Gingival fibromatosis, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Neoplasm ... ORPHA:2591
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Basal cell carcinoma, Defective DNA repair after ultraviolet radiation damage... OMIM:278720
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Chromosomal Instability With Tissue-Specific Radiosensitivity
Neoplasm, Abnormality of chromosome stability OMIM:215510
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Fanconi Anemia, Complementation Group E
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:600901
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Testicular Germ Cell Tumor
Embryonal neoplasm, Teratoma, Azoospermia, Choriocarcinoma OMIM:273300
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Transcobalamin Deficiency
Abnormality of chromosome stability, Decreased circulating antibody level, Lymphopenia, Neutropen... ORPHA:859
Lig4 Syndrome
Cryptorchidism, Abnormality of chromosome stability, Leukocytosis, Hypothyroidism, Lymphoma, Panc... ORPHA:99812
Cheilitis Glandularis
Neoplasm, Abnormal salivary gland morphology, Squamous cell carcinoma ORPHA:1221
Exostoses, Multiple, Type Ii
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133701
Young Syndrome
Azoospermia OMIM:279000
Exostoses, Multiple, Type I
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133700
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Decreased circulating antibody level, Testicular atrophy, Anemia, Hypogona... OMIM:618165
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neoplasm of the gastrointestinal tract, Neoplasm of the rectum, Es... ORPHA:44890
Fanconi Anemia, Complementation Group C
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:227645
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Werner Syndrome
Ovarian neoplasm, Neoplasm, Secondary amenorrhea, Breast carcinoma, Type II diabetes mellitus, Sp... ORPHA:902
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormal circulating hormone concentration, Fibrosarcoma, Abnormality o... ORPHA:314478
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Carcinoma, Renal a... OMIM:610755
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian neoplasm, Anemia, Breast carcinoma OMIM:617883
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Squamous cell carcinoma OMIM:613736
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Carcinoma, Decreased circulating ant... OMIM:158350
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking... OMIM:605724
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Yellow Nail Syndrome
Biliary tract neoplasm, Renal neoplasm, Neoplasm, Sarcoma, Neoplasm of the lung ORPHA:662
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Immunodeficiency 54
Lymphoproliferative disorder, Adrenocorticotropic hormone excess, Reduced natural killer cell cou... OMIM:609981
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Ovarian cyst, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Ambiguous genitalia, Ovotestis, Carcinoma, Decreased testicular size, Extern... OMIM:610644
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
47,Xyy Syndrome
Cryptorchidism, Azoospermia, Oligospermia, Macroorchidism, Hypospadias, Male infertility, Micrope... ORPHA:8
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278700
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
De Sanctis-Cacchione Syndrome
Gonadal hypoplasia, Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278800
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma, Multinodular goiter OMIM:618373
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-ind... OMIM:227646
Functioning Gonadotropic Adenoma
Infertility, Abnormality of the menstrual cycle, Ovarian cyst, Oligospermia, Amenorrhea, Impotenc... ORPHA:91348
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity, Squamous cell carcinoma OMIM:613988
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Mastocytosis
Chronic leukemia, Hepatomegaly, Sarcoma, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Desmoid Tumor
Fibroma, Intestinal polyposis, Neoplasm of the skin, Desmoid tumors ORPHA:873
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Increased circulating IgE level, Squamous cell ... ORPHA:217390
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Apocrine hidrocystoma, Poroma, Squamous cell carcinoma OMIM:224750
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Hepatocellular carcinoma, Impotence, Testicular atrophy, Splenomegaly, H... OMIM:235200
Spermatogenic Failure 28
Decreased testicular size, Azoospermia OMIM:618086
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, Precocious puberty OMIM:300200
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Retinoblastoma
Retinoblastoma, Lymphoma, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability, Neoplasm of the skin OMIM:175800
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability OMIM:600546
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Myotonic Dystrophy 2
Hypogonadism, Oligospermia OMIM:602668
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Bone marrow hypocellularity, Anemia, Micropenis, Chromosome ... OMIM:614083
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma ORPHA:50944
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278730
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Increased circulating IgE level, Reduced sperm m... ORPHA:330015
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Abnormality of chromosome stability, Decreased circulating IgA level, Leukemia, Abnormality of th... OMIM:208910
Oncogenic Osteomalacia
Neoplasm of head and neck, Neurofibromas, Carcinoma, Giant cell tumor of bone, Neoplasm of the sk... ORPHA:352540
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Milroy Disease
Hydrocele testis, Angiosarcoma, Neoplasm of the skin ORPHA:79452
Pituitary Dermoid And Epidermoid Cysts
Oligomenorrhea, Amenorrhea, Oligospermia, Hypogonadism, Neoplasm of the anterior pituitary ORPHA:91351
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Thrombocytopenia, Aplastic a... OMIM:300514
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Tuberous Sclerosis 2
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Pulmonary lymphangiomyo... OMIM:613254
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Premature Ovarian Failure 10
Azoospermia, Primary amenorrhea, Hypoplasia of the ovary, Decreased testicular size, Premature ov... OMIM:612885
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Fanconi Anemia, Complementation Group N
Medulloblastoma, Chromosomal breakage induced by crosslinking agents, Neuroblastoma, Nephroblasto... OMIM:610832
Retinoblastoma
Retinoblastoma, Glioma, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Leukemia, Pineo... ORPHA:790
Trichothiodystrophy
Cryptorchidism, Increased mean corpuscular hemoglobin concentration, Defective DNA repair after u... ORPHA:33364
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Testicular atrophy, Bone marrow hypocellularity, Pancytopenia OMIM:613987
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Bloom Syndrome
Myelodysplasia, Azoospermia, Oligospermia, Neoplasm of the skin, Esophageal neoplasm, Neoplasm of... ORPHA:125
Neurofibromatosis Type 1
Cryptorchidism, Lisch nodules, Neoplasm of the gastrointestinal tract, Abnormality of the endocri... ORPHA:636
Fanconi Anemia
Cryptorchidism, Myelodysplasia, Abnormality of the uterus, Azoospermia, Absent testis, Abnormalit... ORPHA:84
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Meningioma, Gonadal neoplasm, Sarcoma, Schw... ORPHA:96123
Meningioma
Enlarged pituitary gland, Pituitary hypothyroidism, Neoplasm of the posterior pituitary, Decrease... ORPHA:2495
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity OMIM:609054
Gapo Syndrome
Hemangioma, Oligospermia, Amenorrhea, Dysmenorrhea, Hypogonadism ORPHA:2067
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hepatocellular carcinoma, Hypothyroidism, Testicul... ORPHA:465508
Fanconi Anemia, Complementation Group F
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Microphallus, Thrombocytopen... OMIM:603467
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Oligospermia, Oligomenorrhea, Precocious puberty, Female pseudo... ORPHA:786
Dyskeratosis Congenita, X-Linked
Cryptorchidism, Myelodysplasia, Carcinoma, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia... OMIM:305000
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Chromosome breakage OMIM:615272
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Multiple Endocrine Neoplasia Type 4
Elevated circulating growth hormone concentration, Adrenocortical adenoma, Hyperinsulinemic hypog... ORPHA:276152
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Nijmegen Breakage Syndrome
Hemolytic anemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Glioma, B-cel... ORPHA:647
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Decreased circulating antibody l... ORPHA:2268
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... ORPHA:157794
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Cowden Syndrome
Adenoma sebaceum, Neoplasm, Colorectal polyposis, Breast carcinoma, Conjunctival hamartoma, Hamar... ORPHA:201
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Hypothyroidism, Neutropenia, Bone marrow hyp... OMIM:609053
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Non-obstructive azoospermia, Hypoplasia of the ut... ORPHA:432
Meige Disease
Angiosarcoma ORPHA:90186
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Sex reversal, Bicornuate uterus, Hypospadias, True hermaphroditism, Clito... OMIM:400045
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma OMIM:278750
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Aicardi Syndrome
Hemangioma, Carcinoma, Metastatic angiosarcoma, Teratoma, Precocious puberty, Lipoma, Hepatoblastoma OMIM:304050
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligospermia OMIM:614813
Lymphedema-Distichiasis Syndrome
Fibrosarcoma ORPHA:33001
Wolfram Syndrome 1
Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Fanconi Anemia, Complementation Group P
Pancytopenia, Cryptorchidism, Squamous cell carcinoma, Anemia OMIM:613951
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Coccidioidomycosis
Increased circulating IgM level, Granuloma, Abnormal sperm morphology, Increased circulating IgG ... ORPHA:228123
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Uterine leiomyoma, Abnormality of the parathyroid morphology, Renal hamartoma, Nephrobla... ORPHA:99880
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Vulvar neoplasm, Tracheobronchial leiomyomatosis, Fibroma, Esophageal neoplasm, Uterine neoplasm,... ORPHA:1018
Parathyroid Carcinoma
Parathyroid carcinoma, Fibroma, Uterine leiomyoma, Abnormality of the parathyroid morphology, Nep... ORPHA:143
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Cryptorchidism, Midfrontal capillary hemangioma, Oligospermia, Abnormal ovar... ORPHA:95699
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Myelodysplasia, Basal cell carcinoma, Neoplasm of the skin, Hypothyroidism, Neutr... ORPHA:221008
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Abnormality of chromosome stability, Neutropenia, Anemia ORPHA:175
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Pancreatic endocrine tumor, Retinal astrocytic hamartoma, Cardiac rhabdo... ORPHA:805
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal respiratory motile cilium morphology OMIM:244400
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:420741
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Colon cancer, Hypergonadotropic hypogonadism, Choroidal mela... ORPHA:273
Lesch-Nyhan Syndrome
Megaloblastic anemia, Testicular atrophy OMIM:300322
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Primary Ciliary Dyskinesia
Polysplenia, Female infertility, Abnormal sperm motility, Asplenia, Male infertility ORPHA:244
Tetrasomy 9P
Infertility, Cryptorchidism, Pilomatrixoma, Oligospermia, Micropenis ORPHA:3310
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Cryptorchidism, Amegakaryocytic thrombocytopenia, Neurofibrosar... OMIM:163950
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hemangioma, Lisch nodules, Optic nerve glioma, Granuloma, Ossifying fibroma, Neurofibrosarcoma, S... ORPHA:363700
Cystinosis, Nephropathic
Male hypogonadism, Delayed puberty, Primary hypothyroidism, Splenomegaly, Male infertility, Diabe... OMIM:219800
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, T... ORPHA:64
Cystic Fibrosis
Male infertility OMIM:219700
Mismatch Repair Cancer Syndrome 4
Non-Hodgkin lymphoma, Glioblastoma multiforme, Adenomatous colonic polyposis, Astrocytoma, Colon ... 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.

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MGI Allele Allele Type Produced
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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