Gene Summary

Name:
period circadian clock 2
Synonyms:
mPer2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 coat/hair pigmentation Per2tm1a(EUCOMM)Hmgu HOM Early adult 1.51×10-06
increased lean body mass Per2tm1a(EUCOMM)Hmgu HOM Early adult 2.02×10-05
increased circulating alkaline phosphatase level Per2tm1a(EUCOMM)Hmgu HOM Early adult 2.34×10-05
abnormal behavior Per2tm1a(EUCOMM)Hmgu HOM Early adult 2.94×10-05

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Viewing: all phenotypes

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 Per2 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 Per2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Advanced Sleep Phase Syndrome, Familial, 1
OMIM:604348

The table below shows human diseases predicted to be associated to Per2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Cheilitis Glandularis
Squamous cell carcinoma, Abnormal salivary gland morphology, Neoplasm, Thick lower lip vermilion ORPHA:1221
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Brooke-Spiegler Syndrome
Basal cell carcinoma, Skin appendage neoplasm, Abnormality of the submandibular glands, Salivary ... ORPHA:79493
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Syndromic X-Linked Intellectual Disability 7
Tooth malposition, Sparse body hair, Hypogonadism, Abnormal dental morphology, Obesity, Cryptorch... ORPHA:85274
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity, External genital hypoplasia, Cognitive impairment, Micropenis OMIM:615983
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Mehmo Syndrome
Male hypogonadism, Cleft lip, Long philtrum, Widely spaced teeth, Decreased response to growth ho... OMIM:300148
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Polyphagia, Primary amenorrhea, Micropenis OMIM:614962
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Narcolepsy 3
Narcolepsy OMIM:609039
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Enuresis, Inflexible adherence to routines, Failure to thrive in infancy... OMIM:613670
Variant Abeta2M Amyloidosis
Chronic kidney disease, Pathologic fracture, Intestinal perforation, Abnormal salivary gland morp... ORPHA:314652
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
11Q22.2Q22.3 Microdeletion Syndrome
High, narrow palate, Obesity, Thick eyebrow, Short attention span, Thin upper lip vermilion, Atte... ORPHA:444002
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Obesity, Renal insufficiency OMIM:615987
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
48,Xxyy Syndrome
Carious teeth, Open bite, Tall stature, Cryptorchidism, Radioulnar synostosis, Ataxia, Motor ster... ORPHA:10
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Perrault Syndrome 4
Disproportionate tall stature, Obesity, Gait ataxia, Hypoplasia of the ovary, Oligomenorrhea, Cog... OMIM:615300
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Severe Intellectual Disability And Progressive Spastic Paraplegia
Everted upper lip vermilion, Difficulty walking, Wide mouth, Generalized joint hypermobility, Sho... ORPHA:280763
Luscan-Lumish Syndrome
Irregular menstruation, High anterior hairline, Obesity, Polycystic ovaries, Hirsutism, Polyphagi... OMIM:616831
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity, External genital hypoplasia, Renal insufficiency, Stage 5 chronic kidney d... OMIM:615993
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Obesity, Short attention span, Polyphagia, Hyperactivit... ORPHA:411515
Narcolepsy Type 1
Precocious puberty, Transient global amnesia, Male sexual dysfunction, Female sexual dysfunction,... ORPHA:2073
Obesity And Hypopigmentation
Red hair, Obesity OMIM:620195
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Al Amyloidosis
Macroglossia, Xerostomia, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Albu... ORPHA:85443
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism, Oligomenorrhea, Infertility OMIM:604931
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Thick eyebrow, Open mouth, Cryptorchidism, I... OMIM:615547
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Long philtrum, Cryptorchidism, Generalized joint hypermobility, Increased body weight, Attention ... ORPHA:589905
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Xerostomia, Cryptorchidism, Increased body weight, Polyphagia, Cognitive impairmen... ORPHA:398069
Narcolepsy 1
Narcolepsy OMIM:161400
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Obesity, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenor... OMIM:610628
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Decreased fertility, Low posterior hairline, Abnormal hair quantity, Abnor... ORPHA:2233
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Neurofibroma
Intestinal bleeding, Neurofibroma, Peripheral schwannoma, Symmetric spinal nerve root neurofibrom... ORPHA:252183
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
High, narrow palate, Obesity, Loss of ambulation, Ataxia, Premature ovarian insufficiency, Unstea... OMIM:618124
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Hypogonadism, Obesity, External genital hypoplasia, Cryptorchidism,... OMIM:615982
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, Xerostomia, Cryptorchidism, Polyphagia, Primary amenorrhea, Precocious puberty, Os... ORPHA:398079
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia ORPHA:79476
Chung-Jansen Syndrome
Long philtrum, Obesity, Thick eyebrow, Cryptorchidism, Joint hypermobility, Short philtrum, Aggre... OMIM:617991
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Weight loss, Hemat... ORPHA:144
Narcolepsy 7
Narcolepsy OMIM:614250
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Tall stature, Obesity, Overfriendliness, Thin upper lip vermilion, Polyphagia, ... OMIM:620439
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Intestinal polyposis, Vestibular schwannoma, Scleral schwannom... ORPHA:252164
Insulin-Resistance Syndrome Type B
Nephritis, Alopecia, Glycosuria, Lymphoma, Abnormality of body weight, Polycystic ovaries, Increa... ORPHA:2298
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Obesity, Polyphagia, Hypogonadotropic hypogonadism, Hypopigmentation... ORPHA:177910
Polycystic Ovary Syndrome 1
Obesity, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Obesity, Reduced social reciprocity ORPHA:329249
48,Xxxy Syndrome
Small scrotum, Carious teeth, Delayed eruption of teeth, Hypogonadism, Decreased testicular size,... ORPHA:96263
Kallmann Syndrome
Ataxia, Abnormal morphology of female internal genitalia, Tooth agenesis, Breast hypoplasia, Obes... ORPHA:478
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red hair ORPHA:71526
Morbid Obesity And Spermatogenic Failure
Infertility, Obesity, Azoospermia, Oligozoospermia OMIM:615703
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Lead Poisoning
Chronic kidney disease, Memory impairment, Decreased male libido, Reduced sperm motility, Delayed... ORPHA:330015
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity, Narrow mouth OMIM:615984
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Male hypogonadism, Shuffling gait, Bruxism, Obesity, Wrist flexion contracture, High pala... OMIM:300055
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Widely spaced teeth, Inappropriate laughter, Abnormal eating behavior, Short at... ORPHA:98794
Methionine Malabsorption Syndrome
Positive ferric chloride test, Blue irides, White hair OMIM:250900
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Abnormality of the dentition, Breast hypoplasia, Obesity, Re... ORPHA:2235
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Widely spaced teeth, Inappropriate laughter, Abnormal eating behavior, Recurren... ORPHA:411511
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Bulimia, Obsessive-compulsive trait, Cryptorchidism, Polyphagia, Anterior pituitar... ORPHA:177901
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Obesity, Azoospermia, Low posterior hairline, Sparse facial hair, Absent fac... ORPHA:2183
Wilson Disease
Failure to thrive, Abnormality of the menstrual cycle, Difficulty walking, Pathologic fracture, I... ORPHA:905
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Bulimia, Obsessive-compulsive trait, Cryptorchidism, Polyphagia, Anterior pituitar... ORPHA:98793
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Alopecia, Memory impairment, Abnormal libido, Pituitary adenoma, Neuroend... ORPHA:189427
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Bulimia, Cryptorchidism, Polyphagia, Anterior pituitary hypoplasia, Primary amenor... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Bulimia, Obsessive-compulsive trait, Cryptorchidism, Polyphagia, Anterior pituitar... ORPHA:177904
Bardet-Biedl Syndrome 9
Irregular menstruation, Polydipsia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity OMIM:615986
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Obesity, Cryptorchidism, Polycystic ovaries, Secondary amenorrhea, Hyp... ORPHA:3085
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Abnormality of the ureter, Obesity, Cryptorchidism, Abnorm... ORPHA:3409
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Sparse body hair, Hypogonadism, Decreased testicular size, Obesity, Decreased fert... ORPHA:2234
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair ORPHA:2221
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Hypospadias ORPHA:141333
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct... OMIM:604292
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Abnormal hair whorl, Downturned corners of mouth, Horseshoe kidney, Nail... OMIM:300860
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Increased bone mineral density, Tall stature OMIM:618406
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Osteopenia, Decreased response to growth hormone stimulation test,... ORPHA:91348
Angelman Syndrome
Self-injurious behavior, Broad-based gait, Precocious puberty in females, Fair hair, Widely space... ORPHA:72
Radio-Tartaglia Syndrome
Ataxia, Long eyebrows, High palate, Dysphagia, Motor stereotypy, Precocious puberty, High, narrow... OMIM:619312
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cranial hyperostosis, Decreased response to growth hormone stimulation test, Decreased testicular... ORPHA:457240
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Thick lower lip vermilion, Hypogonadism, Decreased testicular size, Obesity, Op... ORPHA:85293
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct... OMIM:129900
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Obesity, Aggressive behavior, H... ORPHA:3077
Griscelli Syndrome Type 2
Iris hypopigmentation, Premature graying of hair, Partial albinism, Hyperlipidemia, Hypopigmentat... ORPHA:79477
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Ataxia, Carious teeth, Organic aciduria, Long philtrum, Obesity, Long eyelashes, Joint hypermobil... OMIM:620191
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Prader-Willi Syndrome
Small scrotum, Carious teeth, Frontal upsweep of hair, Cryptorchidism, Polyphagia, Primary amenor... OMIM:176270
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Female infertility, Ambiguous genitalia, female, Obe... ORPHA:91
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Sialadenitis, Pancreatic fibrosis, Nodular goiter, Abnormal pituitary g... ORPHA:64744
Obesity Due To Congenital Leptin Deficiency
Decreased testicular size, Obesity, Polyphagia, Hypoplasia of the ovary, Primary amenorrhea, Pitu... ORPHA:66628
Melioidosis
Foot osteomyelitis, Parotitis, Prostatitis, Osteoarthritis, Septic arthritis, Abnormal parotid gl... ORPHA:31202
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Smith-Magenis Syndrome
Abnormality of the dentition, Head-banging, Velopharyngeal insufficiency, Everted upper lip vermi... OMIM:182290
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Obesity, Polyphagia, Hypoplasia of the ovary, Primary amenorrhea, Pitu... ORPHA:179494
Obesity Due To Sim1 Deficiency
Memory impairment, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Cognitive impai... ORPHA:369873
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias OMIM:615985
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Abnormal temper tantrums, Failure to thrive, Hypogonadism, Obsessive-compulsive trait, Cryptorchi... ORPHA:500055
Wagro Syndrome
Hypoplastic female external genitalia, Dental crowding, Decreased testicular size, Obesity, Reduc... OMIM:612469
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Renal hypoplasia, Carious teeth, Xerostomia, Abnormality of the dentition, Abnormal ... ORPHA:2363
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Epiphyseal stippling, Increased body weight, Attention deficit hyperactivity disorder, Sm... OMIM:274300
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Hypogonadism, Low urinary cyclic AMP response to PTH administration, O... OMIM:103580
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Obesity, Nephrolithiasis, Hirsutism, Oligomeno... OMIM:219090
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Delayed eruption of teeth, Increased body weight, Increased body mass index, Ma... OMIM:614450
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Failure to thrive, Premature graying of hair ORPHA:100
Prader-Willi Syndrome Due To Translocation
Carious teeth, Everted lower lip vermilion, Anterior pituitary hypoplasia, Microdontia of primary... ORPHA:177907
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Increased body weight, Agitation ORPHA:276608
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormal salivary gland morphology, Hypercalciuria, Weight l... OMIM:181000
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Renal tubular acidosis, Polycystic ovaries, Increased body weight, Dysmen... ORPHA:79240
Insulinoma
Transient global amnesia, Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Zollinger-El... ORPHA:97279
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Failure to thrive, Renal tubular acidosis, Dysmenorrhea, Increased body w... ORPHA:264580
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LD... OMIM:618156
Senior-Loken Syndrome 9
Osteopenia, Nephronophthisis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Tubulointers... OMIM:616629
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Hypogonadism, Low urinary cyclic AMP response to PTH administration, O... OMIM:612462
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal cyst, Cognitive impairme... OMIM:615994
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity, Cryptorchidism, External genital hypoplasia ORPHA:363741
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Obesity, Blue irides OMIM:614613
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Obesity, Thick eyebrow, Cryptorchidism, Joint hypermobility, Aggressive ... ORPHA:404443
Prolactinoma
Decreased fertility in females, Elevated circulating growth hormone concentration, Female hypogon... ORPHA:2965
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Increased circulating prolactin concentration, Ganglioneurob... ORPHA:293987
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... OMIM:194072
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Failure to thrive, Obesity, Reduced social reciprocity, Attention d... ORPHA:261197
Bdv Syndrome
Obesity, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis OMIM:619326
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Cryptorchidism, Polyphagia, High palate, Unsteady gait, Hypospadias, Moto... ORPHA:96121
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... ORPHA:1359
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased urinary cortisol le... ORPHA:99889
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Obesity, Hyperbilirubinemia OMIM:609734
Angelman Syndrome
Broad-based gait, Fair hair, Widely spaced teeth, Obesity, Wide mouth, Protruding tongue, Progres... OMIM:105830
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Kleefstra Syndrome
Limitation of joint mobility, Supernumerary nipple, Cryptorchidism, Everted lower lip vermilion, ... ORPHA:261494
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Failure to thrive ORPHA:70472
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gland morphology, C... OMIM:154500
Sotos Syndrome
High, narrow palate, Narrow palate, Sparse eyebrow, High anterior hairline, Tall stature, Cryptor... OMIM:117550
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Kleefstra Syndrome 1
Hypospadias, Natal tooth, Obesity, Persistence of primary teeth, Cryptorchidism, Protruding tongu... OMIM:610253
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Obesity, Villous atrophy, Primary amenorrhea OMIM:600955
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Igg4-Related Ophthalmic Disease
Lymphoma, Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Non-Hodgkin... ORPHA:449563
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Ectopic ossification, Delayed eruption of teeth, Low uri... ORPHA:79444
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hypophosphatemic rickets, Increased body weight, Proteinur... ORPHA:263455
Macrocephaly/Autism Syndrome
Coarse hair, Long philtrum, Obesity, Large for gestational age, Short attention span, Penile frec... OMIM:605309
Hepatic Veno-Occlusive Disease
Increased body weight, Renal insufficiency ORPHA:890
Adrenocortical Carcinoma
Hypertrichosis, Increased urinary cortisol level, Lung adenocarcinoma, Increased body weight, Abn... ORPHA:1501
Down Syndrome
Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Thick low... ORPHA:870
Cushing Disease
Memory impairment, Abnormal libido, Pituitary corticotropic cell adenoma, Increased urinary corti... ORPHA:96253
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Ectopic ossification, Delayed eruption of teeth, Low uri... ORPHA:79443
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Failure to thrive, Premature graying of hair, Generalized h... ORPHA:3322
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Intellectual Developmental Disorder, Autosomal Dominant 29
Self-injurious behavior, Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Frequent t... OMIM:616078
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Natal tooth, Cryptorchidism, Social and occupational deterioration, Hypospadias, M... ORPHA:353281
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... ORPHA:1772
Bardet-Biedl Syndrome 1
High, narrow palate, Ataxia, Dental crowding, Hypogonadism, Decreased testicular size, Obesity, A... OMIM:209900
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Macular edema, Abnormal retinal vascular morphology, Retinal neovascularizatio... ORPHA:247691
Ulnar-Mammary Syndrome
Renal hypoplasia, Abnormality of the uterus, Camptodactyly of finger, Breast aplasia, Obesity, De... ORPHA:3138
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Abnormal dental enamel morphology, Obesity, Recurrent frac... ORPHA:251004
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Ankyloglossia, Decreased body weight, Hematuria, Cognitive impairment, Ataxia, ... OMIM:619475
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Helsmoortel-Van Der Aa Syndrome
Carious teeth, Ankyloglossia, Cryptorchidism, Polyphagia, Everted lower lip vermilion, Dysphagia,... OMIM:615873
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Failure to thrive, Breast apla... ORPHA:238468
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Adrenal hyperplasia, Hirsutism, Increased body weight, Osteoporosis OMIM:615830
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Narcolepsy, Disinhibition, Aggressive... ORPHA:646
Sheehan Syndrome
Secondary growth hormone deficiency, Sparse pubic hair, Breast hypoplasia, Obesity, Panhypopituit... ORPHA:91355
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Tall stature, Large for gestational age, Narrow mouth, ... ORPHA:77301
Blau Syndrome
Nephropathy, Xerostomia, Limitation of joint mobility, Camptodactyly of finger, Stage 5 chronic k... ORPHA:90340
African Trypanosomiasis
Urinary incontinence, Alopecia, Abnormality of the menstrual cycle, Narcolepsy, Difficulty walkin... ORPHA:3385
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Hydrometrocolpos, Cryptorchidism, Po... ORPHA:110
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Joint hypermobility,... ORPHA:293948
Meningioma
Neoplasm of the skin, Increased circulating prolactin concentration, Difficulty walking, Neoplasm... ORPHA:2495
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Increased body weight, Abdomi... OMIM:615954
Craniopharyngioma
Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obesity, Increased ... ORPHA:54595
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Narrow mouth, Cryptorchidism, Generalized hirsutis... ORPHA:1606
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Distal Deletion 12Q
Obsessive-compulsive trait, Polycystic kidney dysplasia, Ectopic kidney, Duodenal atresia, Patent... ORPHA:96149
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Moderate albuminuria, Osteopenia, Hypogonadism, Pathologic fracture, Obesity, Exte... OMIM:614231
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Hydronephrosis, Cognitive impairment, Vagin... OMIM:615989
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Bilateral breast hypoplasia, Primary amenorrhea ORPHA:319675
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Low posterior hairline, Melanoma, Primary amenorrhea, Celiac... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Low posterior hairline, Melanoma, Primary amenorrhea, Celiac... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Low posterior hairline, Melanoma, Primary amenorrhea, Celiac... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Low posterior hairline, Melanoma, Primary amenorrhea, Celiac... ORPHA:99226
Williams Syndrome
Synostosis of joints, Carious teeth, Open bite, Cryptorchidism, Overfriendliness, Polycystic ovar... ORPHA:904
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Memory impairment, Narcolepsy, Ataxia, Urinary incontinence ORPHA:314404
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Open mouth, Cryptorchidism, Protruding tongue, High palate, Hypospadias, Widely-sp... OMIM:309580
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon... OMIM:149730
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Natal tooth, Cryptorchidism, Social and occupational deterioration, High palate, H... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Natal tooth, Cryptorchidism, Social and occupational deterioration, High palate, H... ORPHA:353277
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Abnormality of... ORPHA:84064
Kikuchi-Fujimoto Disease
Ataxia, Alopecia, Enlargement of parotid gland, Oral ulcer, Weight loss, Anorexia ORPHA:50918
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel... ORPHA:79430
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel... OMIM:214500
Blue Diaper Syndrome
Increased body weight, Nephrocalcinosis, Blue urine ORPHA:94086
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Increased circulat... ORPHA:167
Sarcoidosis
Alopecia, Nephrocalcinosis, Parotitis, Renal insufficiency, Enlargement of parotid gland, Nephrol... ORPHA:797
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Vici Syndrome
Hypopigmentation of the skin, Failure to thrive, Ocular albinism, Elevated circulating creatine k... OMIM:242840
Pallister-Hall Syndrome
Small scrotum, Natal tooth, Hydrometrocolpos, Hypopituitarism, Cryptorchidism, Anal atresia, Hypo... ORPHA:672
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Cystinosis, Nephropathic
Pigmentary retinopathy, Decreased circulating carnitine concentration, Hypopigmentation of the sk... OMIM:219800
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... ORPHA:163746
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Abdominal obesity ORPHA:739
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Degcags Syndrome
Hypopigmentation of the skin, Failure to thrive, Premature graying of hair, Hypertrichosis, Abnor... OMIM:619488
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Frontal balding, Polycystic ovaries, Polyphagia, Cog... ORPHA:64
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ... ORPHA:818
Hellp Syndrome
Increased body weight, Proteinuria, Acute kidney injury, Hemoglobinuria ORPHA:244242
Advanced Sleep Phase Syndrome, Familial, 1
OMIM:604348

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 Per2

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 Per2.

No publications found that use IMPC mice or data for Per2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Per2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Per2tm1c(EUCOMM)Hmgu Wild type floxed exon (post-Flp) Mice
Per2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Per2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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