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Gene: Fem1a MGI:1335089

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Gene Summary

Name:
fem 1 homolog a
Synonyms:
Eprap

Order Alleles

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 eye

15 Images

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Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of right fundus

15 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
Colorectal polyposis, Breast carcinoma, Colon cancer, Desmoid tumors OMIM:135290
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
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
Glioblastoma multiforme, Astrocytoma, Adenomatous colonic polyposis, Colon cancer, Non-Hodgkin ly... OMIM:619101
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
Necrotizing enterocolitis, Verrucae OMIM:613860
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Polyposis, Intestinal, With Multiple Exostoses
Intestinal polyposis, Multiple exostoses OMIM:175450
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Gastric Cancer
Stomach cancer OMIM:613659
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome... OMIM:613244
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea OMIM:615767
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Rena... OMIM:135150
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abdominal pain, Abnormal gastr... ORPHA:263665
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... ORPHA:251992
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis, Endometrial carcinoma OMIM:612591
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Immunodeficiency 76
Chronic diarrhea, Colitis, B-cell lymphoma, Recurrent pneumonia OMIM:619164
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis, Colonic eosin... OMIM:617638
Cronkhite-Canada Syndrome
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Furrowed tongu... ORPHA:2930
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Lymphoid... ORPHA:210548
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... OMIM:300635
Immunodeficiency 70
Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia, Verrucae OMIM:618969
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Familial Adenomatous Polyposis 4
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian c... OMIM:617100
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Anterior uveitis, Colitis, Ileal ulcer OMIM:616744
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... OMIM:619975
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Lynch Syndrome
Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of the rectum, Basal ce... ORPHA:144
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody... OMIM:614602
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Esophagitis, Eosinophilic, 1
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:613412
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... ORPHA:587
Cowden Syndrome 7
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... OMIM:616858
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Neoplasm of the ... ORPHA:424019
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... OMIM:619281
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Gardner Syndrome
Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Immunodeficiency 61
Frequent Giardia lamblia infestation, Malabsorption, Obesity, Arthritis, Colon cancer, Recurrent ... OMIM:300310
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Gastrointestinal Stromal Tumor
Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia OMIM:606764
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis... OMIM:175100
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, F... OMIM:616050
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Peutz-Jeghers Syndrome
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... ORPHA:2869
Turcot Syndrome With Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Vomiti... ORPHA:99818
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Mismatch Repair Cancer Syndrome 3
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... OMIM:619097
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Neoplasm of head and neck, Breast carcinoma, Renal cortical adenoma, Papillary renal cell carcino... ORPHA:97290
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Oligodontia-Colorectal Cancer Syndrome
Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer, Breast carcinoma OMIM:608615
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,... OMIM:618999
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis OMIM:614878
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Mye... ORPHA:48104
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... OMIM:616433
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, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative disorder, Lymphade... ORPHA:911
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co... OMIM:301074
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Large for gestational age, Cryptorchidism, Protuberant abdomen, Hemangioma, ... ORPHA:457485
Lynch Syndrome 5
Neoplasm of the pancreas, Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ov... OMIM:614350
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphoma, Lymphocytic i... ORPHA:436159
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Thymoma
Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Weight loss, Neoplas... ORPHA:99867
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Pneumonia, Erythema nodosum, C... OMIM:614700
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Neoplasm of head and neck, Papillary renal cell carcinoma, Colon ca... ORPHA:319487
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin... OMIM:175200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... ORPHA:324964
Mccune-Albright Syndrome
Intestinal polyposis, Hyperparathyroidism, Elevated circulating growth hormone concentration, Pit... OMIM:174800
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis OMIM:301220
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Neoplasm of the adrenal cortex, Abnormal large intestine morphology, Cachex... ORPHA:109
Neuroblastoma, Susceptibility To, 2
Neuroblastoma, Aganglionic megacolon, Ganglioneuroma, Ganglioneuroblastoma OMIM:613013
Familial Colorectal Cancer Type X
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain... ORPHA:440437
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... ORPHA:98813
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Shigellosis
Failure to thrive in infancy, Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocar... ORPHA:810
Cowden Syndrome 5
Colonic diverticula, Subcutaneous lipoma, Thyroiditis, Breast carcinoma, Furrowed tongue, Hamarto... OMIM:615108
Cowden Syndrome 6
Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcino... OMIM:615109
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Hepatic failure OMIM:619431
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... ORPHA:79076
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Benign Schwannoma
Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... ORPHA:252164
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... ORPHA:424016
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... ORPHA:309031
Cowden Syndrome 1
Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcino... OMIM:158350
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Hemangioma, Volvulus, Intussusception, Cerebellar medullobl... OMIM:112200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... ORPHA:90038
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... OMIM:617718
Immunodeficiency 97 With Autoinflammation
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot... OMIM:619802
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Hematologic... ORPHA:3243
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hor... OMIM:131100
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, B-cell lymphom... OMIM:619381
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis, Failure to thrive, Breast aplasia ORPHA:276413
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti... ORPHA:29207
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Mednik Syndrome
Volvulus, Jejunal atresia, Microcolon, Diarrhea OMIM:609313
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... OMIM:618213
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux OMIM:201475
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Inflammation of the large intestine, Chronic diarrhea, Esophageal varix OMIM:614576
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Microcolon OMIM:619362
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e... ORPHA:540
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... ORPHA:139411
Sepsis In Premature Infants
Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enteroco... ORPHA:90051
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Common Variable Immunodeficiency
Failure to thrive in infancy, Pneumonia, Gastrointestinal stroma tumor, Lymphoma, Bronchiectasis,... ORPHA:1572
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel... ORPHA:2908
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Cleft palate, Acute lym... ORPHA:1052
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... OMIM:615895
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Gastrointestinal hemorrhage, Visceral angiomatosis, Esophageal varix, Caver... ORPHA:774
Medulloblastoma
Nausea and vomiting, Adenomatous colonic polyposis, Medulloblastoma, Spinal cord tumor, Neoplasm ... ORPHA:616
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, Osteoma, ... ORPHA:261584
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Ecz... ORPHA:391487
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, B-cell lymphoma, Hepatitis, Hodgki... ORPHA:3261
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula OMIM:173900
Aicardi Syndrome
Intestinal polyposis, Hiatus hernia, Malabsorption, Feeding difficulties in infancy, Cleft palate... ORPHA:50
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... OMIM:619708
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Feeding difficulties in... ORPHA:3260
Syndromic Diarrhea
Villous atrophy, Gastritis, Small for gestational age, Bloody diarrhea, Colitis, Hypoplasia of th... ORPHA:84064
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Nausea, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, S... ORPHA:544482
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Polycystic ovaries, Gout, In... ORPHA:79259
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... ORPHA:171
Intussusception
Intussusception OMIM:147710
Glycogen Storage Disease Ib
Pancreatic fibrosis, Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellul... OMIM:232220
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndr... ORPHA:276152
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Microcolon OMIM:619351
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Cutaneous leiomyoma, High palate, Hepatic failure OMIM:606812
Bloom Syndrome
Poor appetite, Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Otitis media, ... ORPHA:125
Glycogen Storage Disease Ic
Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... OMIM:232240
Cocaine Intoxication
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... ORPHA:90068
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Hematemesis, Keratitis, Chronic diarrhea, Lymphoma, Chronic leukemia, Acute le... ORPHA:906
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Microcolon ORPHA:163746
Plague
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Erythema nodosum, D... ORPHA:707
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Gastrointestinal carc... OMIM:175050
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Secret... OMIM:619573
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptorchidism, Gast... ORPHA:93932
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam... ORPHA:556
Beckwith-Wiedemann Syndrome
Nephroblastoma, Rhabdomyosarcoma, Large for gestational age, Feeding difficulties in infancy, Cry... ORPHA:116
Wiskott-Aldrich Syndrome
Lymphoproliferative disorder, Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumoni... OMIM:301000
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Obesity, Inflammation of the large intestine, Neoplasm, Myeloproliferative disorder ORPHA:70591
Sarcoidosis, Susceptibility To, 1
Anorexia, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Weight loss, Arthriti... OMIM:181000
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit... OMIM:617137
Dermatomyositis
Pericarditis, Gastrointestinal stroma tumor, Feeding difficulties in infancy, Myocarditis, Lympho... ORPHA:221
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Intestinal malrotation, Colon perforation, Pancreatic hypo... OMIM:600001
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Hamartomatous stomach polyps, M... OMIM:109400
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increas... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increas... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increas... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Hashimoto thyroiditis, Celiac disease, High, narrow palate, Increas... ORPHA:99226
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
Mowat-Wilson Syndrome
Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten... ORPHA:2152
Restrictive Dermopathy
Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard palate, Microcolon 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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