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Gene: Erlin1 MGI:2387613

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Gene Summary

Name:
ER lipid raft associated 1
Synonyms:
Spfh1,  Keo4,  2810439N09Rik

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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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Erlin1em1(IMPC)Tcp HOM Late adult 0.00
abnormal liver morphology Erlin1em1(IMPC)Tcp HOM Late adult 0.00
increased circulating alanine transaminase level Erlin1em1(IMPC)Tcp HOM Early adult 2.09×10-09
enlarged urinary bladder Erlin1em1(IMPC)Tcp HOM Late adult 0.00
abnormal seminal vesicle morphology Erlin1em1(IMPC)Tcp HOM Late adult 0.00
abnormal stomach morphology Erlin1em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Erlin1em1(IMPC)Tcp HOM Early adult 0.00
abnormal spleen morphology Erlin1em1(IMPC)Tcp HOM Early adult 0.00
small adrenal glands Erlin1em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Erlin1em1(IMPC)Tcp HOM Late adult 0.00
decreased bone mineral density Erlin1em1(IMPC)Tcp HOM Late adult 3.77×10-07
abnormal skin morphology Erlin1em1(IMPC)Tcp HOM Early adult 0.00
abnormal ovary morphology Erlin1em1(IMPC)Tcp HOM Late adult 0.00
decreased lean body mass Erlin1em1(IMPC)Tcp HOM Early adult 1.03×10-05

Download data as:  TSV  XLS

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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

Images Ophthalmoscopy

179 Images

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Eye Morphology

Images Slit Lamp

168 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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Eye Morphology

Images Slit Lamp

15 Images

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Eye Morphology

Images Ophthalmoscopy

59 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

6 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Erlin1 mutations

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

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

The table below shows human diseases associated to Erlin1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Recessive Spastic Paraplegia Type 62
Knee flexion contracture ORPHA:401785
Spastic Paraplegia 62, Autosomal Recessive
OMIM:615681

The table below shows human diseases predicted to be associated to Erlin1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Joint hyperflexibility, Hypogonadism ORPHA:1875
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... ORPHA:543
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Reduced serum alpha-1-antitrypsin, Hepatocellular carcinoma, Gastric varix, Splenomegaly OMIM:613490
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Gonadoblastoma
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno... ORPHA:206484
Hepatic Adenomas, Familial
Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia, Hyperaldosteronism OMIM:103900
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Abnormal liver parenchyma morphology, Anem... ORPHA:64743
Familial Hyperprolactinemia
Female hypogonadism, Osteoporosis, Hemorrhagic ovarian cyst, Osteopenia ORPHA:397685
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Gonad... ORPHA:199310
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distr... OMIM:261000
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Nodular goiter, Colon cancer, Follicular thyroid carcinoma, Chron... ORPHA:319487
Ovarian Fibroma
Gonadal calcification, Abnormality of the ovary, Peritonitis, Mesenteric cyst, Ovarian fibroma ORPHA:314473
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Neoplasm of the large inte... ORPHA:157798
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Weight loss, Multipl... ORPHA:2494
Rudiger Syndrome
Ureterovesical stenosis, Flexion contracture, Bicornuate uterus, Ovarian cyst, Micropenis OMIM:268650
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Nodular goiter, Colon cancer, Chronic noninfectious lymphadenopat... ORPHA:97290
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal... ORPHA:404
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Familial Hyperaldosteronism Type I
Hypokalemia, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, D... ORPHA:403
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hyperammonemia, Splenomegaly ORPHA:664
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Pyloric stenosis, Abnormal platelet morphology, Abnormal intestine morpho... ORPHA:2978
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... ORPHA:3453
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Abnormal stomach morphology, Testicular seminoma, Cryptorchidism, Acute leukemia ORPHA:281090
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia, Adrenal hyperplasia, Hyperaldosteronism OMIM:613677
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Ovarian Fibrothecoma
Gonadal calcification, Abnormality of the ovary, Peritonitis, Abnormal endometrium morphology, Ov... ORPHA:314478
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, A... ORPHA:2795
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... OMIM:615830
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... ORPHA:90791
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live... ORPHA:400
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal... ORPHA:251274
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... ORPHA:189439
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Weight loss, Abnormal testis... ORPHA:54251
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... OMIM:613179
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Jaundice, Decreased circulating cortisol level, Hyperkalemia, Increased circulati... ORPHA:90790
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231580
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Biliary tract abnormality... ORPHA:234
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Pyloric stenosis, Abno... ORPHA:381
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Anemia, Intussusception, Duodenal adenocarcinoma, Hypokalemia, Multiple ... OMIM:174900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-s... ORPHA:369929
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Jaundice,... ORPHA:276
Mccune-Albright Syndrome
Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell... ORPHA:562
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia, Cleft palat... ORPHA:96181
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Cac... ORPHA:1876
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Hypothyroidism, Small for gestational age, Pyloric stenosis, Hypoprotein... OMIM:256300
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... ORPHA:263665
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... ORPHA:91348
Satoyoshi Syndrome
Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the u... ORPHA:3130
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Bronchogenic Cyst
Abnormal esophagus morphology, Abnormal stomach morphology, Abnormality of the peritoneum, Dysphagia ORPHA:2357
Pyloric Stenosis, Infantile Hypertrophic, 1
Failure to thrive, Pyloric stenosis OMIM:179010
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, High palate, Small for gestational age, Pyloric stenosis, Bifid uvula, Maturi... ORPHA:96184
Scleroderma
Hypereosinophilia, Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intes... ORPHA:801
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Abnormality ... OMIM:228300
Chronic Granulomatous Disease
Liver abscess, Malabsorption, Pyloric stenosis, Abnormality of neutrophils, Tracheoesophageal fis... ORPHA:379
Hardikar Syndrome
Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac disease, Hepatomegaly, Hematem... OMIM:301068
Microgastria-Limb Reduction Defect Syndrome
Gastroesophageal reflux, Esophageal atresia, Perineal fistula, Anal atresia, Tracheoesophageal fi... ORPHA:2538
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Decreased eosinophil count,... ORPHA:99889
Systemic Sclerosis
Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... ORPHA:90291
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus ORPHA:247768
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating dehydroepiandrosterone-sulfate concentration, Decreased circulating cortiso... ORPHA:95699
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Increased mean platelet volume, Intestina... OMIM:300048
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Cryptorchidism ORPHA:2617
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract... ORPHA:44890
Tetraamelia Syndrome 1
Asplenia, Anal atresia, Cleft palate, Adrenal gland agenesis OMIM:273395
Agammaglobulinemia, X-Linked
Septic arthritis, Prostatitis, Enteroviral hepatitis, Hepatocellular carcinoma, Epididymitis, Lym... OMIM:300755
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Pyloric stenosis, Elevated circulating creatine kinase concentration, Hepatic s... OMIM:613327
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Left ventric... OMIM:209900
Pancreatoblastoma
Abnormal lymph node morphology, Elevated maternal serum alpha-fetoprotein, Pancreatic calcificati... ORPHA:677
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Elevated maternal serum alpha-fetoprotein, Esophageal atresia OMIM:226730
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Cleft palate, Adrenal gland agenesis OMIM:611812
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Jaundice, Xerostomia, Hep... ORPHA:779
Metachromatic Leukodystrophy
Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Neoplasm of the gallb... ORPHA:512
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Nephrolithiasis, Cervicitis ORPHA:722
Cushing Disease
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased circulating... ORPHA:96253
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst, Uterine leiomyoma OMIM:617100
Congenital Tracheal Stenosis
Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi... ORPHA:141127
Hydrolethalus Syndrome 1
Cleft palate, Adrenal gland dysgenesis, Accessory spleen OMIM:236680
Esophageal Atresia
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1199
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Gonadoblastoma, ... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Gonadoblastoma, ... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Gonadoblastoma, ... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Gonadoblastoma, ... ORPHA:99226
Doors Syndrome
Gastroesophageal reflux, High palate, Narrow palate, Adrenal hyperplasia, Thrombocytosis, Congeni... ORPHA:79500
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Hyperuricemia, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia o... ORPHA:93111
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia, Elevated circulating creatine kinase concentration ORPHA:158684
Viss Syndrome
Hypereosinophilia, Gastroesophageal reflux, Hypothyroidism, High palate, Cleft soft palate, Bifid... OMIM:619472
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Williams Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Abnormal circulating lipid concentra... ORPHA:904
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Autosomal Recessive Spastic Paraplegia Type 62
Knee flexion contracture ORPHA:401785
Spastic Paraplegia 62, Autosomal Recessive
OMIM:615681

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.

Phenotype Allele Zygosity Sex Life Stage
Brain - MPATH pathological process term necrosis Erlin1em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological entity term hyalinosis Erlin1em1(IMPC)Tcp HOM Early adult

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 Erlin1.

No publications found that use IMPC mice or data for Erlin1.

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MGI Allele Allele Type Produced
Erlin1em1(IMPC)Tcp Exon Deletion Mice
Erlin1tm79023(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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