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Gene: Fem1a MGI:1335089

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Gene Summary

Name:
fem 1 homolog a
Synonyms:
Eprap

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IMPC Data Collections

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.

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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.

Eye Morphology

VIP of right fundus

10 Images

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Eye Morphology

VIP of right eye

10 Images

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Eye Morphology

VIP of left eye

10 Images

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Eye Morphology

VIP of left fundus

10 Images

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Human diseases caused by Fem1a 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 Fem1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Desmoid Disease, Hereditary
Colon cancer, Breast carcinoma, Colorectal polyposis, Desmoid tumors OMIM:135290
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Polyposis Syndrome, Hereditary Mixed, 2
Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... OMIM:610069
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Mismatch Repair Cancer Syndrome 4
Astrocytoma, Non-Hodgkin lymphoma, Adenomatous colonic polyposis, Glioblastoma multiforme, Colon ... OMIM:619101
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Ficolin 3 Deficiency
Verrucae, Necrotizing enterocolitis OMIM:613860
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Neo... ORPHA:388
Gastric Cancer
Stomach cancer OMIM:613659
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Uterine leiomyoma, Stomach cancer, Juvenile gastrointestin... ORPHA:480536
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Gangl... ORPHA:251992
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Thyroid carcinoma, Duodenal adenocarci... ORPHA:157794
Birt-Hogg-Dube Syndrome 1
Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple lipomas, Large intestinal p... OMIM:135150
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
High-Grade Dysplasia In Patients With Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction ORPHA:231080
Adenocarcinoma Of The Esophagus
Barrett esophagus, Gastroesophageal reflux, Obesity, Nausea and vomiting, Feeding difficulties in... ORPHA:99976
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Weight loss, Co... ORPHA:26790
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Weight loss, Constipation, Abdominal distention, Abdo... ORPHA:160148
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Inflammation of the large intestine, Failure to thrive, Crohn's disease OMIM:615767
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Li-Fraumeni Syndrome
Choriocarcinoma, Stomach cancer, Melanoma, Neoplasm of the rectum, Hodgkin lymphoma, Acute myeloi... ORPHA:524
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Desmoid Tumor
Neoplasm of the skin, Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestina... ORPHA:873
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Chronic diarrhea, Ulcerative ... OMIM:617638
Immunodeficiency 76
B-cell lymphoma, Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Multiple lipomas, Lymphoid nodular hyperplasia, Hurthle ... ORPHA:210548
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Mala... ORPHA:2930
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Breast in... OMIM:617100
Apc-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Mul... ORPHA:247806
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Skin rash, Esophageal ne... ORPHA:44890
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren... OMIM:300635
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Failure to thrive, Skin rash, Perianal abscess, Ga... OMIM:618108
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Malignant genitourinary tract tumor, Duodenal ade... OMIM:158320
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Failure to thrive, Volvulus, Malnutrition, Villous atrophy, Abnormal small in... ORPHA:95427
Immunodeficiency 70
Verrucae, Recurrent sinusitis, Colitis, Achalasia, Celiac disease, Furuncle OMIM:618969
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for... OMIM:613217
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424019
Trichohepatoenteric Syndrome 2
Diarrhea, Failure to thrive, Bloody diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chroni... OMIM:614602
Gardner Syndrome
Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, Desmoid tumors... ORPHA:79665
Cowden Syndrome 7
Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hashimoto thyroiditis, Hem... OMIM:616858
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne OMIM:604416
Juvenile Nasopharyngeal Angiofibroma
Juvenile colonic polyposis, Juvenile nasopharyngeal angiofibroma ORPHA:289596
Lynch Syndrome
Neoplasm of the skin, Colon cancer, Nausea and vomiting, Neoplasm of the skeletal system, Neoplas... ORPHA:144
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Dec... ORPHA:209964
Familial Adenomatous Polyposis 1
Osteoma, Adrenocortical adenoma, Fibroadenoma of the breast, Duodenal adenocarcinoma, Duodenal po... OMIM:175100
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Recurrent pneumonia, Recurrent sinusitis, Colitis, Chronic d... OMIM:619281
Peutz-Jeghers Syndrome
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Abdominal ... ORPHA:2869
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Neoplasm of head and neck, Papillary renal cell carcinoma, Renal cortical adenoma, Papill... ORPHA:97290
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Turcot Syndrome With Polyposis
Diarrhea, Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Basal cell carcinoma, Leukemia,... ORPHA:99818
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ... ORPHA:733
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Mismatch Repair Cancer Syndrome 3
Lymphoma, Astrocytoma, Neoplasm of the rectum, Lisch nodules, T-cell lymphoma, Glioblastoma multi... OMIM:619097
Gastrointestinal Stromal Tumor
Neurofibroma, Intestinal obstruction, Gastrointestinal stroma tumor, Constipation, Dysphagia OMIM:606764
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, Medullo... OMIM:276300
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Failure to thrive, Intussusception, Duodenal adenocarcinoma, Multiple gas... OMIM:174900
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon OMIM:613711
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Failure to thrive, Villous atrophy, Skin rash, Feeding difficulties in infanc... OMIM:616050
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... OMIM:175500
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Failure to thrive, Eosin... ORPHA:411696
Mhc Class Ii Deficiency 1
Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Malabsorption, Villous... OMIM:209920
Oligodontia-Colorectal Cancer Syndrome
Fundic gland polyposis, Breast carcinoma, Adenomatous colonic polyposis, Colon cancer OMIM:608615
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Immunodeficiency 60 And Autoimmunity
Ulcerative colitis, Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis OMIM:618394
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Colonic eosinophilia, Membranous nephropathy, Eosinophilic ... OMIM:618999
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... OMIM:243150
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Bloody diarrhea, Neoplasm of t... OMIM:175200
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Myositis, Pustule, Myeloid leukemia, M... ORPHA:48104
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis OMIM:614878
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Neoplasm of head and neck, Papillary renal cell carcinoma, ... ORPHA:319487
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... OMIM:616433
Juvenile Polyposis Syndrome
Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal... ORPHA:2929
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Failure to thrive, Decreased pineal volume OMIM:301108
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Vomiting, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic... OMIM:243180
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Failure to thrive, Chronic mucocutaneous candidiasis, Lymphoma, Recurre... ORPHA:911
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Failure ... OMIM:614700
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Neoplasm of head and neck, Neoplasm of the thyroid glan... ORPHA:99867
Meconium Ileus
Microcolon, Chronic diarrhea, Meconium ileus OMIM:614665
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm, Neoplasm o... OMIM:614350
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... OMIM:615237
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Verrucae, Failure to thrive, Eczematoid d... OMIM:618131
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Cryptorchidism, Lactose intolerance, Hemangioma, Protuberant abdomen, ... ORPHA:457485
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties OMIM:616809
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Intestinal polyposis, Vestibular schwannoma, Scleral schwannom... ORPHA:252164
Cowden Syndrome 5
Colonic diverticula, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Furrowed tongue, O... OMIM:615108
Mccune-Albright Syndrome
Hyperparathyroidism, Pituitary adenoma, Increased circulating prolactin concentration, Intestinal... OMIM:174800
Cowden Syndrome 6
Colonic diverticula, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Furrowed tongue, F... OMIM:615109
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Uterine neoplasm, Lymphoma, Capillary hemangioma, Meningioma... ORPHA:109
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... ORPHA:92050
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Bloody diarrhea, Intestinal obstruction, Constrictive pericarditis... ORPHA:67
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Familial Colorectal Cancer Type X
Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Neoplasm of the skeletal system, Neop... ORPHA:440437
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon, Ganglioneuroma, Ganglioneuroblastoma, Neuroblastoma OMIM:613013
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Failure to thrive in infancy, Colitis, Chronic diarrhea, Bronchiectasis OMIM:301220
Cowden Syndrome 1
Colonic diverticula, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Furrowed tongue, F... OMIM:158350
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis, Failure to thrive OMIM:615947
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Failure to thrive, Eczematoid dermatitis, Chronic mucocutane... ORPHA:98813
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis OMIM:620133
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Shigellosis
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Fail... ORPHA:810
Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration OMIM:614266
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Sclerosing cho... ORPHA:2137
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon, Hepatic failure OMIM:619431
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Inte... ORPHA:1333
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Nausea and vomiting, Cryptorchidism, Neoplasm of the heart, A... ORPHA:2241
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424016
Cyclic Neutropenia
Periodontitis, Otitis media, Perianal abscess, Enterocolitis, Peritonitis, Sinusitis, Abdominal p... ORPHA:2686
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... OMIM:618935
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Weight loss, Keratoconjunctivitis si... ORPHA:309031
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, High palate, Colo... ORPHA:201
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Burkitt lymphoma, Myelodysplasia, Prostate cancer, Nephroblastoma, Hodgkin lymph... ORPHA:158057
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Hemangioma, Rectal prolapse, Cerebellar medulloblastoma, Intussusc... OMIM:112200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Bloody diarrhea, Rectal prolapse, Peritonitis, Pancreatitis, Abdominal pain, ... ORPHA:90038
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... ORPHA:793
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Diarrhea, Pituitary adenoma, Thyroid adenoma, Pituitary prolactin cell adenoma, Inc... OMIM:131100
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
10Q22.3Q23.3 Microdeletion Syndrome
Breast aplasia, Intestinal polyposis, Failure to thrive ORPHA:276413
Immunodeficiency 97 With Autoinflammation
Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Abdominal pain, Enterocolitis, Colitis, ... OMIM:619802
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Blepharitis, Recurrent pneumonia, Failure to t... OMIM:617718
Colonic Atresia
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis ORPHA:1198
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Abdominal distention OMIM:619362
Zygomycosis
Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Abdominal pain, E... ORPHA:73263
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Weight loss, Anorexia, Abdo... OMIM:619381
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Failure to thrive, Pancolitis, Eosinophilic infiltration of the esophagus, P... OMIM:618213
Mednik Syndrome
Microcolon, Diarrhea, Volvulus, Jejunal atresia OMIM:609313
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Pheochromocytoma/Paraganglioma Syndrome 4
Chemodectoma, Neuroblastoma, Gastrointestinal stroma tumor, Adrenal pheochromocytoma, Paraganglio... OMIM:115310
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Intestinal polyposis, Myelodysplasia, Nephrob... ORPHA:1052
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea, Failure to thrive, Esophageal varix OMIM:614576
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Osteoma, Intestinal bleeding, Duodenal polyposis, Hepatoblastoma, Adenomatous colonic polyposis, ... ORPHA:261584
Zollinger-Ellison Syndrome
Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Intestinal ... ORPHA:913
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Medulloblastoma
Neoplasm of the lung, Adenomatous colonic polyposis, Nausea and vomiting, Medulloblastoma, Neurob... ORPHA:616
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... ORPHA:71272
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Skin rash, Infectious encephalitis, Erythroderma, Colitis, Maculopapula... ORPHA:540
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Neoplasm of the ureth... ORPHA:2908
Sepsis In Premature Infants
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Adrenocortical adenoma, Pheochromocytoma, Nausea and vomit... ORPHA:139411
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Failure to thrive, Eczematoid d... OMIM:615895
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Lymphoma, Failure to thrive in infancy, Otitis media, Gastrointestinal... ORPHA:1572
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Hodgkin lymphoma, Glomerulonephritis, Basal cell carcinoma, Thyroid adenoma... ORPHA:3261
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula OMIM:173900
Aicardi Syndrome
Gastroesophageal reflux, Malabsorption, Intestinal polyposis, Hiatus hernia, Hepatoblastoma, Feed... ORPHA:50
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... OMIM:619708
Syndromic Diarrhea
Intractable diarrhea, Bloody diarrhea, Villous atrophy, Hypoplasia of the thymus, Hepatoblastoma,... ORPHA:84064
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Hamartomatous polyposis, Juvenile gastrointestinal poly... OMIM:175050
Primary Sclerosing Cholangitis
Cholelithiasis, Uveitis, Hepatitis, Acute hepatic failure, Abdominal pain, Weight loss, Chronic h... ORPHA:171
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Abdominal distention, Failure to thrive, Eczematoid dermati... ORPHA:3260
Intussusception
Intussusception OMIM:147710
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Failure to thrive, Gout, Polycystic... ORPHA:79259
Multiple Endocrine Neoplasia Type 4
Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Renal angio... ORPHA:276152
Bloom Syndrome
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Acute myeloid leukemia, Acute lympho... ORPHA:125
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions,... ORPHA:544482
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Pancreatitis, Protuberant abdomen, Pancreatic fibrosis... OMIM:232220
Fumarase Deficiency
Hepatic failure, Cutaneous leiomyoma, Failure to thrive, High palate, Necrotizing enterocolitis OMIM:606812
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... OMIM:147060
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr... ORPHA:707
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia, Pyelonephritis, Peritonitis, Abdominal distention OMIM:619351
Glycogen Storage Disease Ic
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Stomatitis, Hepa... OMIM:232240
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis,... ORPHA:906
Malakoplakia
Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Neoplasm of the col... ORPHA:556
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... ORPHA:90068
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Ileus, Aganglionic megacolon, Constipation, Abdominal pain ORPHA:163746
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Necrotizing enterocolitis, Feeding diffi... OMIM:619573
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Obesity, Large for gestational a... ORPHA:116
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Failure to thrive, Parotitis, Abdominal pain, Arthritis, Conjunctivi... OMIM:620376
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Slender buil... ORPHA:93932
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Obesity, Neoplasm, Myeloproliferative disorder ORPHA:70591
Basal Cell Nevus Syndrome 1
Basal cell carcinoma, Cardiac rhabdomyoma, Medulloblastoma, Ovarian carcinoma, Cardiac fibroma, O... OMIM:109400
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Iridocyclitis, Weight loss, Arthri... OMIM:181000
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Recurrent pneumonia, Eczematoid dermatitis, Recurr... OMIM:301000
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Cholelithiasis, Hepatic failure, Tongue telangiectasia, Intestinal p... ORPHA:774
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, High palat... OMIM:617137
Neurofibromatosis Type 1
Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom... ORPHA:636
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Failure to thrive, Pancreatic hypoplasia, Intestinal malrotation, ... OMIM:600001
Bardet-Biedl Syndrome
Inflammation of the large intestine, Decreased testicular size, Obesity, Cryptorchidism, Otitis m... ORPHA:110
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Failure to thrive in infancy, Abnormali... ORPHA:99413
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Failure to thrive in infancy, Abnormali... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Failure to thrive in infancy, Abnormali... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Failure to thrive in infancy, Abnormali... ORPHA:99226
Dermatomyositis
Heliotrope rash, Lymphoma, Neoplasm, Skin rash, Lung adenocarcinoma, Myositis, Gastrointestinal s... ORPHA:221
17Q11 Microdeletion Syndrome
Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neuromas, Atypical neuro... ORPHA:97685
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Cryptorch... ORPHA:2152
Restrictive Dermopathy
Aplasia/Hypoplastia of the eccrine sweat glands, Microcolon, Submucous cleft hard palate ORPHA:1662

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 Fem1a

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 Fem1a.

No publications found that use IMPC mice or data for Fem1a.

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
Fem1aem1(IMPC)Bay Whole-gene deletion Mice
Fem1atm389673(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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