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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
increased circulating alanine transaminase level Erlin1em1(IMPC)Tcp HOM Early adult 2.59×10-09
abnormal liver morphology Erlin1em1(IMPC)Tcp HOM Late adult 0.00
abnormal eye morphology Erlin1em1(IMPC)Tcp HOM Late adult 0.00
abnormal seminal vesicle morphology Erlin1em1(IMPC)Tcp HOM Late 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
abnormal stomach morphology Erlin1em1(IMPC)Tcp HOM Early adult 0.00
decreased lean body mass Erlin1em1(IMPC)Tcp HOM Early adult 1.03×10-05
abnormal skin morphology Erlin1em1(IMPC)Tcp HOM Early adult 0.00
decreased bone mineral density Erlin1em1(IMPC)Tcp HOM Late adult 3.77×10-07
abnormal ovary morphology Erlin1em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Erlin1em1(IMPC)Tcp HOM Late adult 0.00
enlarged urinary bladder Erlin1em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Erlin1em1(IMPC)Tcp HOM Early adult 0.00

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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Gross Pathology and Tissue Collection

Images

10 Images

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Eye Morphology

Images Ophthalmoscopy

59 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 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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Gross Pathology and Tissue Collection

Images

12 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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X-ray

XRay Images Skull Dorso Ventral Orientation

10 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
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Joint hyperflexibility, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis, Reduced serum alpha-1-antitrypsin OMIM:613490
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis ORPHA:397685
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Rudiger Syndrome
Ureterovesical stenosis, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hyperammonemia ORPHA:664
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Sple... OMIM:602450
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma ORPHA:281090
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Ovarian Fibrothecoma
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Abnormality... ORPHA:314478
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... ORPHA:90791
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Familial Melanoma
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach ORPHA:618
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Hyp... OMIM:174900
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentra... OMIM:613179
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decrease... ORPHA:231580
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Jaundice, Biliar... ORPHA:234
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Hyperkalemia, ... ORPHA:90790
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration, Abnormality o... ORPHA:54251
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... ORPHA:189427
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... ORPHA:381
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Hyperaldosteronism, Dexamethasone-s... ORPHA:369929
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia... ORPHA:276
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Maternal Uniparental Disomy Of Chromosome 6
Cleft palate, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasi... ORPHA:96181
Nephrotic Syndrome, Type 1
Small for gestational age, Hypothyroidism, Hyperlipidemia, Pyloric stenosis, Hypoalbuminemia, Gas... OMIM:256300
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Mccune-Albright Syndrome
Aneurysmal bone cyst, Osteomalacia, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovari... ORPHA:562
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Bronchogenic Cyst
Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho... ORPHA:2357
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Osteopenia, Decreased response to growth hormone stimulation test, ... ORPHA:91348
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Failure to thrive OMIM:179010
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s... OMIM:201810
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi... ORPHA:2538
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal... ORPHA:379
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Epididymitis, Lymph node hypoplasia, Hepatocellular carcinoma, Septic arth... OMIM:300755
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... OMIM:613327
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis, Anal atresia, Cleft palate OMIM:273395
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Abnormality of the ovary, Hypogonadism, Vaginal atresia, Hepatic fibro... OMIM:209900
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,... ORPHA:677
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alpha-fetoprotein OMIM:226730
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ... ORPHA:779
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Cleft palate OMIM:611812
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... ORPHA:512
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Hypoplasminogenemia
Nephrolithiasis, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Muir-Torre Syndrome
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Colon cancer, Adenoma se... ORPHA:587
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst OMIM:617100
Hydrolethalus Syndrome 1
Accessory spleen, Cleft palate, Adrenal gland dysgenesis OMIM:236680
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Esophageal Atresia
Barrett esophagus, Small for gestational age, Failure to thrive in infancy, Maternal diabetes, In... ORPHA:1199
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Incre... ORPHA:99413
Turner Syndrome
Osteopenia, Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Incre... ORPHA:881
Mosaic Monosomy X
Osteopenia, Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Incre... ORPHA:99228
Monosomy X
Osteopenia, Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Incre... ORPHA:99226
Doors Syndrome
Adrenal hyperplasia, Narrow palate, Cleft palate, Congenital hypothyroidism, High palate, Gastroe... ORPHA:79500
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... ORPHA:1359
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Diabetes mellitus, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancr... ORPHA:93111
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Congenital pyloric atresia ORPHA:158684
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Williams Syndrome
Colonic diverticula, Failure to thrive in infancy, Hypercalcemia, Elevated circulating creatine k... ORPHA:904
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy 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 entity term hyalinosis Erlin1em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term necrosis 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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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
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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