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Gene: Hdgfl1 MGI:1194493

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Gene Summary

Name:
HDGF like 1
Synonyms:
Hdgfrp1,  HRP-1,  Pwwp1

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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
embryonic lethality prior to organogenesis Hdgfl1em1(IMPC)Tcp HOM   E9.5 0.00
preweaning lethality, complete penetrance Hdgfl1em1(IMPC)Tcp HOM   Early adult 0.00
prenatal lethality prior to heart atrial septation Hdgfl1em1(IMPC)Tcp HOM   E15.5 0.00
increased heart weight Hdgfl1em1(IMPC)Tcp HET Early adult 5.68×10-06
small testis Hdgfl1em1(IMPC)Tcp HET Early adult 0.00
decreased circulating serum albumin level Hdgfl1em1(IMPC)Tcp HET Early adult 4.34×10-05

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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.

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Immunophenotyping

Panel B FCS file(s)

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Gross Pathology and Tissue Collection

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X-ray

XRay Images Whole Body Dorso Ventral

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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Histopathology

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Human diseases caused by Hdgfl1 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 Hdgfl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Ethanolaminosis
Cardiomegaly OMIM:227150
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... OMIM:619868
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Diarrhea 13
Hypoalbuminemia OMIM:620357
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... ORPHA:481
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Dilated cardiomyopathy, Hypoalbuminemia OMIM:618805
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Alg1-Cdg
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology ORPHA:79327
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:616050
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism, Hypothyroidism OMIM:619013
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Perimembranous ventr... OMIM:608104
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Alg6-Cdg
Puberty and gonadal disorders, Hypoalbuminemia, Decreased LDL cholesterol concentration, Increase... ORPHA:79320
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... OMIM:618528
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:618347
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre... OMIM:235200
Reni Syndrome
Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypoalbuminemia, Micro... OMIM:617575
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Mpi-Cdg
Hepatomegaly, Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Immunodeficiency 27A
Splenomegaly, Hypoalbuminemia, Hepatosplenomegaly OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia OMIM:256300
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia OMIM:616730
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... ORPHA:247598
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Hepatomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Leishmaniasis
Splenomegaly, Hepatomegaly, Hypoalbuminemia ORPHA:507
Immunodeficiency 32B
Splenomegaly, Hepatomegaly, Hypoalbuminemia OMIM:226990
Citrullinemia Type Ii
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia... ORPHA:247585
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Central... ORPHA:1667
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Elevated circulating th... OMIM:618183
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, Hypo... ORPHA:367
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... OMIM:603553
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Hypoalbuminemia OMIM:617021
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Liver Failure, Infantile, Transient
Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Hypothyroidism, Hypoalbuminemia OMIM:226300
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal cardiac ventricle morpholog... ORPHA:85443
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Congenital Enterovirus Infection
Pericardial effusion, Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia ORPHA:292
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... ORPHA:540
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Hypoalbuminemia, Pulmonic stenosis, Hypernatremia, ... OMIM:615508
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Pericardial effusion, Hepatosplenomegaly, Hypoalbuminemia, Left ventr... OMIM:619487
Primary Intestinal Lymphangiectasia
Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Hepatoportal Sclerosis
Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Peri... OMIM:212065
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... OMIM:251880
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Hypoalbuminemia, Atrial septal defect, Hypertrophic cardiomyopathy, E... OMIM:617303
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... OMIM:235510
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Muscular... ORPHA:79324
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypertrophic cardiomyopathy, Bile duct proliferation, Hypoalbuminemia OMIM:618329
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Hypothyroidism, Spl... ORPHA:465508
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Enlarged polycystic ovaries, Abnormal... ORPHA:2298
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Decreased LDL cholesterol co... ORPHA:14
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Dilated cardiomyopathy, Decreased circulating carnitine concentration, Decr... ORPHA:89842
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Hypoalbuminemia, Abnormal pericardium morphology ORPHA:67
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Trichohepatoenteric Syndrome 1
Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Increased serum iron, Hypoalb... OMIM:222470
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Abnormality of the endocrine system, Splenomegaly, Thyroiditis, Abnormal blood i... ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom... OMIM:618838
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... ORPHA:36234
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia... OMIM:277900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormal heart morphology, Hepatosplenomegaly, Hypoalbuminemia, Atrial septal defect, Hypertrophi... ORPHA:505248
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Constrictive... ORPHA:90363
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Hypoalbuminemia OMIM:610965
Primary Biliary Cholangitis
Abnormality of the thyroid gland, Abnormal circulating lipid concentration, Hypoalbuminemia, Conj... ORPHA:186
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Atrial septal defect, Hepatomegaly, Small scrotum, Hypospadias, Ventricular septal... OMIM:270400
Juvenile Polyposis Of Infancy
Atrial septal defect, Hypoalbuminemia, Freckled genitalia, Abnormal heart morphology ORPHA:79076
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Primary Sclerosing Cholangitis
Hepatomegaly, Splenomegaly, Thyroiditis, Hepatosplenomegaly, Hypoalbuminemia, Neoplasm of the gal... ORPHA:171
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Marburg Hemorrhagic Fever
Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylasemia, Orchitis, Elev... ORPHA:99826
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Cardiomyopathy, Hypothyroidism, Testicular atrophy OMIM:222300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Prim... OMIM:619534
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Hypoalbuminemia, Bile duct proliferation, Hypocalcemia, Unconjugated hyperbilirubi... OMIM:613658
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Splenomegaly, Hypoalbuminemia, Anoperineal... OMIM:619381
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia OMIM:300322
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Pmm2-Cdg
Pericarditis, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, P... ORPHA:79318
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063

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 Hdgfl1

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 Hdgfl1.

No publications found that use IMPC mice or data for Hdgfl1.

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MGI Allele Allele Type Produced
Hdgfl1em1(IMPC)Tcp Intra-exon deletion Mice

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