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Gene: Htatip2 MGI:1859271

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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:
HIV-1 Tat interactive protein 2
Synonyms:
TIP30

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 Htatip2 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 Htatip2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Melanoma-Astrocytoma Syndrome
Astrocytoma, Cutaneous melanoma OMIM:155755
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Ovarian Cancer
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma OMIM:167000
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... ORPHA:157798
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Glioma Susceptibility 1
Glioblastoma multiforme, Astrocytoma, Ependymoma OMIM:137800
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Thymoma, Familial
Neoplasm, Thymoma OMIM:274230
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Neuroblastoma, Susceptibility To, 2
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma OMIM:613013
Glioma Susceptibility 2
Oligodendroglioma, Meningioma OMIM:613028
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Chordoma, Susceptibility To
Chordoma, Astrocytoma OMIM:215400
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Congenital Central Hypoventilation Syndrome
Neoplasm of the central nervous system, Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma ORPHA:661
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... ORPHA:251636
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Platelet Disorder, Undefined
Neuroblastoma, Hematological neoplasm OMIM:173420
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Desmoid Disease, Hereditary
Desmoid tumors, Breast carcinoma OMIM:135290
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Lymphad... ORPHA:83469
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... ORPHA:276399
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma OMIM:601399
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... ORPHA:276152
Myasthenia, Limb-Girdle, Autoimmune
Neoplasm, Hashimoto thyroiditis, Thymoma OMIM:159400
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Neoplasm of the nervous system, Ganglioneuroblastoma ORPHA:2151
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Gonadoblastoma
Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s... ORPHA:206484
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Milroy Disease
Angiosarcoma, Hydrocele testis, Neoplasm of the skin ORPHA:79452
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Elevated urinary catecholamine lev... OMIM:115310
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Myasthenia Gravis
Abnormality of the endocrine system, Thymoma OMIM:254200
Fanconi Anemia, Complementation Group N
Nephroblastoma, Medulloblastoma, Neuroblastoma OMIM:610832
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Hematologica... ORPHA:587
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Lymphangioma, Hamartoma, Neoplas... ORPHA:137608
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory ... ORPHA:2221
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Ganglioneuroblastoma, Elevated urinary dopamine level, Abno... OMIM:256700
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Aase-Smith Syndrome I
Congenital neuroblastoma OMIM:147800
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... OMIM:615723
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal circulating hormone concentration, Abnormal end... ORPHA:314478
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Sarcoma ORPHA:66661
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... ORPHA:296
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Good Syndrome
Mediastinal lymphadenopathy, Diabetes mellitus, Aplasia/Hypoplasia of the thymus, Thymoma ORPHA:169105
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Haddad Syndrome
Neuroblastoma, Ganglioneuroma ORPHA:99803
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma ORPHA:626
Meige Disease
Angiosarcoma, Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Frasier Syndrome
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Focal segmental glomerul... OMIM:136680
Cowden Syndrome 1
Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Ha... OMIM:158350
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome... OMIM:613244
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Medulloblastoma
Elevated hepatic transaminase, Medulloblastoma, Spinal cord tumor, Neoplasm of the lung, Neurobla... ORPHA:616
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma OMIM:612591
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... ORPHA:902
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Dysgerminoma, Chordee, Gonadal dysgenesis, Gonadoblastoma, Clitoral hy... OMIM:613762
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Jaundice, Spinal cord tumor, Ovaria... ORPHA:370348
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Panc... ORPHA:97289
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Mechanical ileus, Functional intestinal obstruction,... ORPHA:100079
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Localized neuroblastoma, Abnormality of the scrotum ORPHA:2505
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Liposarcoma
Sarcoma ORPHA:69078
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Fanconi Anemia, Complementation Group S
Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm OMIM:617883
Dextrocardia
Abnormal reproductive system morphology, Abnormality of the spleen, Abnormality of the ureter, Ne... ORPHA:1666
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Biliary cirrhosis, Thymoma, Anteri... ORPHA:227990
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Bil... ORPHA:227982
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias OMIM:619096
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Precocious puberty, Retinal hamartoma, Absence of renal cor... OMIM:613254
Familial Adenomatous Polyposis 4
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian c... OMIM:617100
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Adrenocortical adenoma, ... ORPHA:231632
Central Hypoventilation Syndrome, Congenital, 1
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma OMIM:209880
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Breast car... ORPHA:1333
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Nephrolithiasis, Desmoid t... ORPHA:137605
Desmoid Tumor
Fibroma, Neoplasm of the skin, Hydronephrosis, Desmoid tumors ORPHA:873
Rhabdoid Tumor
Renal neoplasm, Lymphadenopathy, Neoplasm of the central nervous system, Hematuria, Neoplasm of t... ORPHA:69077
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Adrenal cal... ORPHA:85138
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neuroblastoma, Optic nerve g... OMIM:601321
Skin Creases, Congenital Symmetric Circumferential, 1
Localized neuroblastoma, Hypoplastic nipples OMIM:156610
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... ORPHA:79140
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Noonan Syndrome With Multiple Lentigines
Hypospadias, Myelodysplasia, Cryptorchidism, Melanoma, Neuroblastoma ORPHA:500
Solitary Fibrous Tumor
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the l... ORPHA:2126
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
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... ORPHA:217253
Beckwith-Wiedemann Syndrome
Ureteral duplication, Leiomyosarcoma, Neoplasm, Vesicoureteral reflux, Hepatoblastoma, Nephropath... ORPHA:116
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy ORPHA:99868
Yellow Nail Syndrome
Renal neoplasm, Biliary tract neoplasm, Yellow nails, Neoplasm of the lung, Neoplasm, Sarcoma ORPHA:662
Aicardi Syndrome
Precocious puberty, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangioma OMIM:304050
Carney Complex
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... ORPHA:1359
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... OMIM:620189
Oncogenic Osteomalacia
Hyperphosphaturia, Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carc... ORPHA:352540
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
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
Medulloblastoma
Medulloblastoma OMIM:155255
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... OMIM:194080
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog... ORPHA:158057
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... OMIM:109400
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Dubowitz Syndrome
Hypospadias, Cryptorchidism, Lymphoma, Acute lymphoblastic leukemia, Neuroblastoma OMIM:223370
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Nephroblast... ORPHA:373
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... OMIM:175200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Esoph... ORPHA:1018
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Tuberous Sclerosis 1
Chordoma, Astrocytoma, Precocious puberty, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma... OMIM:191100
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Hypothyroidism, Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... ORPHA:99818
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Trisomy 8P
Cryptorchidism, Annular pancreas, Micropenis, Nephrocalcinosis, Aplasia/Hypoplasia of the gallbla... ORPHA:264450
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia OMIM:600273
Schopf-Schulz-Passarge Syndrome
Poroma, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Sparse hair, Sparse body h... OMIM:224750
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
Junctional Epidermolysis Bullosa Inversa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79405
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr... ORPHA:99880
Ring Chromosome 12 Syndrome
High, narrow palate, Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Dystrophic toenail... ORPHA:1439
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma of the vulva, Verrucae, Squamous cell carcinoma ORPHA:217390
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Ganglioneur... ORPHA:293987
Late-Onset Junctional Epidermolysis Bullosa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79406
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr... ORPHA:143
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Breast hypoplasia, Neurobl... ORPHA:506358
1P36 Deletion Syndrome
Hepatic steatosis, Hypoplasia of penis, Hypospadias, Abnormality of the spleen, Cryptorchidism, A... ORPHA:1606
Necrobiosis Lipoidica
Abnormality of the thyroid gland, Diabetes mellitus, Squamous cell carcinoma ORPHA:542592
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Crouzon Syndrome
Dysgerminoma OMIM:123500
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Intestinal polyposis, Skeletal muscle atrophy, Abnormal large int... ORPHA:109
Apert Syndrome
Ovarian neoplasm ORPHA:87
Self-Improving Dystrophic Epidermolysis Bullosa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79411
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Sotos Syndrome
Ureteropelvic junction obstruction, Sacrococcygeal teratoma, Ureteral duplication, Astrocytoma, H... ORPHA:821
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... ORPHA:424016
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Fibrosarcoma, Diabetes mellitus, Proteinuria ORPHA:33001
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... ORPHA:77301
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... OMIM:278760
Proteus Syndrome
Neoplasm of the thymus, Renal cyst, Neoplasm of the central nervous system, Neoplasm, Capillary h... ORPHA:744
Blue Rubber Bleb Nevus
Hemangioma, Abnormality of the liver, Cerebellar medulloblastoma OMIM:112200
Monosomy 22
Aplasia of the thymus, Schwannoma, Synophrys, Hepatosplenomegaly, Contractures of the large joint... ORPHA:96123
Mismatch Repair Cancer Syndrome 3
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Lisch nodules OMIM:619097
Atypical Werner Syndrome
Renal neoplasm, Hepatic steatosis, Diabetes mellitus, Abnormal circulating leptin concentration, ... ORPHA:79474
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... ORPHA:790
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Tuberous Sclerosis Complex
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... ORPHA:805
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Oropharyngeal squamous cell carcinoma, Alopecia, Yellow nails, Breast carcinoma, Nail dystrophy, ... OMIM:614564
Schwannomatosis, Vestibular
Astrocytoma, Bilateral vestibular schwannoma, Retinal hamartoma, Optic nerve sheath meningioma, E... OMIM:101000
Cowden Syndrome 6
Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Hamartomatous... OMIM:615109
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia OMIM:606764
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Breast carcinom... ORPHA:90790
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Endometrial carcinoma, Brain neoplasm, Diabetes mellitus, Decrease... ORPHA:273
Recessive Dystrophic Epidermolysis Bullosa Inversa
Urethral stricture, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Vaginal st... ORPHA:79409
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Endometrial carcinoma, High, narrow palate, Breast carcinoma, Melanoma, Thick eyebrow ORPHA:457212
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Hepatomegaly, Elevated hepatic transaminase, Portal hy... ORPHA:171
Neurofibromatosis Type 1
Abnormal hair quantity, Astrocytoma, Precocious puberty, Cryptorchidism, Chronic myelogenous leuk... ORPHA:636
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Medulloblastoma ORPHA:199276
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Alopecia of scalp OMIM:618373
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Decreased testicular size, Oropharyngeal squamous cell carcinoma, Alopeci... OMIM:305000
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Uterine leiomyoma, Gastroesophageal reflux, Exostoses OMIM:616482
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... OMIM:162200
Carney Triad
Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphadenopathy, Leiomyosarcoma, Adre... ORPHA:139411
Pudendal Neuralgia
Neoplasm of the genitourinary tract, Scrotal pain, Anal canal adenocarcinoma, Genital neoplasm ORPHA:60039
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma ORPHA:60032
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Alopecia, Esophageal stricture, Flexion contracture, Squamous... OMIM:226600
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79410
Fanconi Anemia, Complementation Group P
Cryptorchidism, Pelvic kidney, Horseshoe kidney, Squamous cell carcinoma OMIM:613951
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... ORPHA:97286
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Squamous cell carcinoma OMIM:243700
Papillon-Lefèvre Syndrome
Liver abscess, Generalized hirsutism, Squamous cell carcinoma, Melanoma, Nail dystrophy, Neoplasm... ORPHA:678
Benign Schwannoma
Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannoma, Abnormality of the ... ORPHA:252164
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Furrowed tongue, Absent ... OMIM:148210
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Cleft soft palate, Myelodysplasia, Low anterior hairline, Hi... ORPHA:124
Chromomycosis
Lymphangiectasis, Multiple cutaneous malignancies, Squamous cell carcinoma ORPHA:182
Nijmegen Breakage Syndrome
Glioma, Rhabdomyosarcoma, Lymphoma, Medulloblastoma, Hydronephrosis OMIM:251260
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Flexion contracture, Squamous... OMIM:601675
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb
Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous neurofibroma... OMIM:613675
Lymphangioleiomyomatosis
Renal neoplasm, Abnormal urinary color, Retinal hamartoma, Renal angiomyolipoma, Abnormality of t... ORPHA:538
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... ORPHA:363700
Pineoblastoma
Retinoblastoma, Pinealoma ORPHA:251909
Bloom Syndrome
Cryptorchidism, Lymphoma, Squamous cell carcinoma, Azoospermia, Type II diabetes mellitus, Leukem... OMIM:210900
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Adrenocortical carcino... OMIM:130650
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Thyroid carcinoma, Hepatomegaly, B-cell lymphoma, Chronic noninfectious lym... ORPHA:3261
Bohring-Opitz Syndrome
Medulloblastoma, Annular pancreas, Urinary retention, Cholelithiasis, Nephroblastoma ORPHA:97297
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... OMIM:268400
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ... OMIM:260920
Rothmund-Thomson Syndrome Type 1
Calcinosis, Alopecia totalis, Myelodysplasia, Cryptorchidism, Functional abnormality of the gastr... ORPHA:221008
Perlman Syndrome
Renal hamartoma, Cryptorchidism, Nephroblastomatosis, Pancreatic islet-cell hyperplasia, Nephrobl... OMIM:267000
Rothmund-Thomson Syndrome Type 2
Calcinosis, Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Cleft palate, Squamous ce... ORPHA:221016
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Phimosis, Esophageal stricture, Flexion contracture, Neoplasm of the ure... ORPHA:2908

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 Htatip2

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 Htatip2.

No publications found that use IMPC mice or data for Htatip2.

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
Htatip2tm3a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Htatip2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Htatip2tm3e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Htatip2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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