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Gene: Plin1 MGI:1890505

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
perilipin 1
Synonyms:
Plin,  perilipin B,  6030432J05Rik,  perilipin A,  Peri

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Plin1 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 Plin1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877

The table below shows human diseases predicted to be associated to Plin1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Delayed thelarche, Hyperinsuline... OMIM:616033
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellit... ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... OMIM:608612
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... OMIM:246200
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:248370
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... OMIM:608594
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Obesity And Hypopigmentation
Red hair, Hepatic steatosis, Hyperinsulinemia, Obesity OMIM:620195
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... OMIM:269700
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... ORPHA:280365
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, I... OMIM:613327
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Impulsivity, Tapered finger, Flexion contractur... OMIM:615547
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Decreased serum leptin, Obesity OMIM:614962
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... ORPHA:79237
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Postaxial foot polydactyly, Polydactyly, Hypogonadism, Polyph... OMIM:617119
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Small hand, Obesity, Short foot, Abnorma... ORPHA:177910
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... ORPHA:263455
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity ... ORPHA:261229
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Obesity, Bilateral talipes equinovarus, Polyphagia, Self-mutilation OMIM:616521
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Cebalid Syndrome
Highly arched eyebrow, Thick eyebrow, Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypog... OMIM:602579
2Q23.1 Microdeletion Syndrome
Hyperactivity, Sandal gap, Highly arched eyebrow, Synophrys, Paroxysmal bursts of laughter, Polyp... ORPHA:228402
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypergonado... OMIM:203800
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Thick h... ORPHA:769
6Q16 Microdeletion Syndrome
Tapered finger, Obesity, Abnormal temper tantrums, Polyphagia, Thick eyebrow ORPHA:171829
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Hypopigmentation of hair, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... ORPHA:79319
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of secondary sex... ORPHA:785
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... OMIM:615986
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Facial hypertrichosis, Insulin resistance, Hyp... ORPHA:508
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... OMIM:606407
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating free fatty acid level... ORPHA:71212
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ... ORPHA:79474
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Dorsocervical fat pad, Paradoxical... ORPHA:189427
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Man1B1-Cdg
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, 2-3 toe syndactyly, Truncal obesi... ORPHA:397941
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Impulsiv... ORPHA:398069
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Precocious puberty, ... ORPHA:398079
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Prominent fingertip pads, Sparse hair, Large h... OMIM:277590
Secondary Short Bowel Syndrome
Central hypothyroidism, Weight loss, Primary hypothyroidism, Steatorrhea, Failure to thrive, Poly... ORPHA:95427
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Pediatric-Onset Graves Disease
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... ORPHA:525731
Prader-Willi Syndrome
Decreased muscle mass, Decreased response to growth hormone stimulation test, Short palm, Syndact... OMIM:176270
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Luscan-Lumish Syndrome
Aggressive behavior, Advanced ossification of carpal bones, Obesity, High anterior hairline, Poly... OMIM:616831
Trisomy 18P
Facial palsy, Highly arched eyebrow, Abnormal finger morphology, Attention deficit hyperactivity ... ORPHA:1715
Intellectual Developmental Disorder, Autosomal Dominant 1
Short palm, Sandal gap, Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Short... OMIM:156200
Adnp Syndrome
Sparse scalp hair, Inguinal hernia, Broad hallux, Sandal gap, Oral-pharyngeal dysphagia, Aggressi... ORPHA:404448
Angelman Syndrome
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... ORPHA:72
Pseudohypoparathyroidism Type 1C
Calcinosis, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Decreased r... ORPHA:79444
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased c... ORPHA:453533
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Lipoatrophy, Sparse eyelashes, Decreased serum leptin, Sparse eyebro... OMIM:614008
Prader-Willi Syndrome
Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes... ORPHA:739
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Broad hallux, Aggressive behavior, Slender finger, Small hand, Fine hair, Tibial bo... ORPHA:251028
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Polyphagia, Abnormal dental enamel morphology, Delayed puberty ORPHA:251004
Pseudohypoparathyroidism Type 1A
Calcinosis, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Decreased r... ORPHA:79443
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, In... ORPHA:3464
7Q11.23 Microduplication Syndrome
Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:300942
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggr... ORPHA:293987
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Rett Syndrome
Skeletal muscle atrophy, Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitiv... ORPHA:778
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h... OMIM:606721
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, High urinary gonadotropin ... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, High urinary gonadotropin ... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, High urinary gonadotropin ... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, High urinary gonadotropin ... ORPHA:99226
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Compulsive behaviors, Short 4... OMIM:615873
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decre... ORPHA:273
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepati... OMIM:619991
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
D-Glyceric Aciduria
Increased circulating free fatty acid level ORPHA:941
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Failure ... OMIM:610768
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Camptodactyly of finger, Abnormal repetitive mannerisms, Polyphagia,... ORPHA:1606
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Cyanosis, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin ... ORPHA:740
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Sandal gap, Aggressive behavior, Hair-pulling, Long fingers, Polyphagia, Cutaneous s... OMIM:620330
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypog... ORPHA:79318
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Small for gestational age, Increased circulating free fatty acid... ORPHA:26793
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Metatarsus adductus, Synophrys, Polyphagia, Obesity... OMIM:607872
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
Leukocyte Adhesion Deficiency
Peritonitis, Nail dystrophy, Hyperinsulinemic hypoglycemia ORPHA:2968

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 Plin1

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 Plin1.

No publications found that use IMPC mice or data for Plin1.

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MGI Allele Allele Type Produced
Plin1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Plin1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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