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

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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
Immunodeficiency 108 With Autoinflammation
Recurrent fever, Fever OMIM:260570
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Ragweed Sensitivity
Fever OMIM:179450
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... 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 the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Narcolepsy 3
Narcolepsy OMIM:609039
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Skin appendage neoplasm, Abnormality of the sublingual glands, Multiple ... ORPHA:79493
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Narcolepsy 7
Narcolepsy OMIM:614250
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Breast carci... ORPHA:587
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Narcolepsy 1
Narcolepsy OMIM:161400
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Tooth malposition, Micropenis, Sparse body hair, Abnormality of dental morph... ORPHA:85274
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment, Hypogonadism OMIM:615989
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Bardet-Biedl Syndrome 5
External genital hypoplasia, Cognitive impairment, Micropenis, Hypogonadism, Obesity OMIM:615983
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Leptin Deficiency Or Dysfunction
Micropenis, Primary amenorrhea, Abnormal eating behavior, Polyphagia, Decreased testicular size, ... OMIM:614962
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Bardet-Biedl Syndrome 10
Cognitive impairment, Renal cyst, Renal insufficiency, Hypogonadism, Obesity OMIM:615987
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Hyperostosis Frontalis Interna
Hypertrichosis, Irregular menstruation, Hyperostosis frontalis interna, Increased circulating pro... OMIM:144800
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... OMIM:193510
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormality of the tongue, Abnormal salivary gland morphology ORPHA:314652
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Mehmo Syndrome
Inability to walk, Decreased response to growth hormone stimulation test, Cleft palate, Micropeni... OMIM:300148
Bardet-Biedl Syndrome 16
External genital hypoplasia, Cognitive impairment, Renal cyst, Renal insufficiency, Hypogonadism,... OMIM:615993
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Disproportionate tall statu... OMIM:615300
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Carcinoma Of Esophagus
Esophageal neoplasm, Barrett esophagus, Abnormal intestine morphology, Dysphagia, Obesity, Weight... ORPHA:70482
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Retinal Venous Beading
Vitreous hemorrhage, Retinal neovascularization, Neutropenia, Retinal infarction, Abnormal distri... OMIM:180080
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Al Amyloidosis
Nephrotic syndrome, Autonomic erectile dysfunction, Macroglossia, Xerostomia, Abnormal salivary g... ORPHA:85443
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... ORPHA:33445
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Osteoporosis, Decreased testicular... OMIM:610628
Cortisone Reductase Deficiency 1
Infertility, Hirsutism, Precocious puberty, Alopecia, Oligomenorrhea, Obesity OMIM:604931
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Loss of ambulation, High, narrow palate, Unsteady gait, Obesity, Premature ovarian insuff... OMIM:618124
Luscan-Lumish Syndrome
Advanced ossification of carpal bones, Hirsutism, Irregular menstruation, Overgrowth, Polyphagia,... OMIM:616831
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Obesity, Hyperbilirubinemia OMIM:609734
Neurofibroma
Symmetric spinal nerve root neurofibromas, Facial neoplasm, Intestinal bleeding, Plexiform neurof... ORPHA:252183
48,Xxyy Syndrome
Infertility, Ataxia, Taurodontia, Hypoplasia of penis, Tall stature, Cleft palate, Hypergonadotro... ORPHA:10
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Abnormal hair quantity, Abnormal testis morphology, Hypogonadism, Obesity, Low poste... ORPHA:2233
Intellectual Developmental Disorder With Autism And Macrocephaly
Reduced use of typical gestures, Tall stature, Pica, Pronoun reversal, Long philtrum, Open mouth,... OMIM:615032
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... ORPHA:897
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the dentition, Renal cyst, Hypogonadism, Obesity, Cry... OMIM:615982
Griscelli Syndrome Type 1
Hyperlipidemia, Partial albinism, Iris hypopigmentation, Premature graying of hair, White hair ORPHA:79476
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Insulin-Resistance Syndrome Type B
Hodgkin lymphoma, Decreased body weight, Multiple myeloma, Hirsutism, Nephritis, Alopecia, Osteoa... ORPHA:2298
Schaaf-Yang Syndrome
Inability to walk, Thick eyebrow, Flexion contracture, Micropenis, Open mouth, Camptodactyly, Pol... OMIM:615547
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Recurrent fractures, Precocious puberty, Abnormal hair quantity, Cognitive impairment, Alopecia, ... ORPHA:457059
Polycystic Ovary Syndrome 1
Amenorrhea, Hirsutism, Oligomenorrhea, Obesity, Enlarged polycystic ovaries OMIM:184700
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Hypogonadotropic hypogonadism, Hypopigmentation of hair, Polyphagia,... ORPHA:177910
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, S... ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, I... ORPHA:398069
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Sialadenitis, Xerostomia, Abnormal salivary gland morphology, Abnor... ORPHA:449432
Benign Schwannoma
Vestibular schwannoma, Abnormal esophagus morphology, Intestinal polyposis, Scleral schwannoma, S... ORPHA:252164
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Kallmann Syndrome
Recurrent fractures, Ataxia, Tooth agenesis, Dyspareunia, Hypoplasia of penis, Cleft palate, Redu... ORPHA:478
Bardet-Biedl Syndrome 19
Renal insufficiency, Obesity, External genital hypoplasia, Hypogonadism OMIM:615996
Piebaldism
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... ORPHA:2884
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Impaired social interactions, No social interaction ORPHA:329249
Bardet-Biedl Syndrome 7
Obesity, Narrow mouth, Hypogonadism OMIM:615984
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Obesity, Azoospermia OMIM:615703
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Obesity, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Obesity, Red hair ORPHA:71526
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Nephrolithiasis, Pituitary adenoma, Hirsutism, Cognitive impairment, Neuroendo... ORPHA:189427
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Hypoplasia of the ovary, Reduced circulating prolactin concentration, Reduce... ORPHA:2235
Methionine Malabsorption Syndrome
White hair, Positive ferric chloride test, Blue irides OMIM:250900
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Nephrolithiasis, Pituitary adenoma, Hirsutism, Cognitive impairment, Fibroaden... ORPHA:189439
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... ORPHA:894
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Hypoplasia of penis, Camptodactyly of finger, Abnormality of the ureter, Ost... ORPHA:3409
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Poor eye contact OMIM:613886
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Hypergonadotropic hypogonadism, Absent facial hair, Sparse facial hair, Azoo... ORPHA:2183
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Sparse body hair, Decreased testicular size, Hypogonadism... ORPHA:2234
Vogt-Koyanagi-Harada Disease
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ... ORPHA:3437
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Secondary amenorrhea, Decreased testicular size, Polycystic ovari... ORPHA:3085
Bardet-Biedl Syndrome 9
Polydipsia, Irregular menstruation, Truncal obesity, Polyphagia, Renal insufficiency, Obesity OMIM:615986
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... OMIM:614963
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Obesity, Hypospadias, Hypogonadism ORPHA:141333
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair, Weight loss ORPHA:2221
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
48,Xxxy Syndrome
Abnormal dental enamel morphology, Infertility, Taurodontia, Hypoplasia of penis, Tall stature, A... ORPHA:96263
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Increased bone mineral density, Tall stature OMIM:618406
Central Precocious Puberty
Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Overgrowth, Abnormalit... ORPHA:759
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse eyebrow, Facial hirsutism, Cleft palate, Microdontia, Carious teeth, Anteriorly placed anu... OMIM:604292
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Polyphagia, Adrenocortical adenoma OMIM:248100
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Enlarged polycystic ovaries, Pit... ORPHA:91348
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Precocious puberty, Poor eye contact, Short philtrum, Joint hypermobility, Obesity, ... ORPHA:254531
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Small scrotum, ... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Small scrotum, ... ORPHA:98754
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Obesity ORPHA:411515
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Small scrotum, ... ORPHA:98793
Down Syndrome
Anal atresia, Narrow mouth, Narrow palate, Sparse hair, Macroglossia, Abnormality of the dentitio... ORPHA:870
46,Xy Sex Reversal 1
Sex reversal, Tall stature, Abnormality of male external genitalia, Male pseudohermaphroditism, P... OMIM:400044
Aromatase Deficiency
Delayed epiphyseal ossification, Generalized hirsutism, Female infertility, Ambiguous genitalia, ... ORPHA:91
Intellectual Developmental Disorder, X-Linked, Syndromic 13
High palate, Ataxia, Flexion contracture, Wrist flexion contracture, Shuffling gait, Choreoatheto... OMIM:300055
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Small scrotum, ... ORPHA:177904
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse hair, Sparse eyebrow, Cleft palate, Microdontia, Carious teeth, Central diabetes insipidus... OMIM:129900
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Nodular ... ORPHA:64744
Melioidosis
Prostatitis, Osteoarthritis, Foot osteomyelitis, Abnormal parotid gland morphology, Parotitis, Se... ORPHA:31202
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hirsutism, Hypoplasia of the uterus, Thick eyebrow, Cleft palate, Fac... ORPHA:247768
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Polyphagia, Pituitar... ORPHA:66628
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Polydipsia, Adrenocorticotropic hormone deficiency, Ganglioneuroma, Decreased respons... ORPHA:293987
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Polyphagia, Pituitar... ORPHA:179494
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... OMIM:601375
Griscelli Syndrome Type 2
Hyperlipidemia, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation, Premature gray... ORPHA:79477
Bardet-Biedl Syndrome 8
Obesity, Hypospadias, Hypogonadism OMIM:615985
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Increased circulating farnesol concentration, Hypocholesterolem... OMIM:618156
Prader-Willi-Like Syndrome
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Small scrotum, ... ORPHA:398073
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Prostatitis, Sialadenitis, Nephrotic range pr... ORPHA:449395
Wilson Disease
Failure to thrive, Abnormality of the menstrual cycle, Pathologic fracture, Arthritis, Difficulty... ORPHA:905
Prader-Willi Syndrome
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Carious teeth, ... OMIM:176270
Lacrimoauriculodentodigital Syndrome
Bicornuate uterus, Hypodontia, Abnormality of the dentition, Xerostomia, Microdontia, Bifid uvula... ORPHA:2363
Pseudohypoparathyroidism, Type Ia
Cognitive impairment, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Hypogonadism, O... OMIM:103580
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:352731
Pseudohypoparathyroidism, Type Ic
Cognitive impairment, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Hypogonadism, O... OMIM:612462
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Macroglossia, Increased body mass index, Delayed eruption of teeth, Increased b... OMIM:614450
Obesity Due To Sim1 Deficiency
Obesity, Polyphagia, Memory impairment, Cognitive impairment ORPHA:369873
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Bardet-Biedl Syndrome 17
Polydipsia, Cognitive impairment, Micropenis, Polyuria, Renal cyst, Hypogonadism, Obesity, Stage ... OMIM:615994
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlarged... ORPHA:79078
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Dysmenorrhea, Irregular menstruation, Oligomenorrhea, Osteoporosis, Hepat... ORPHA:79240
Ataxia-Telangiectasia
Failure to thrive, Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature graying of hair ORPHA:100
Prolactinoma
Impotence, Dyspareunia, Decreased fertility in males, Osteopenia, Erectile dysfunction, Hypogonad... ORPHA:2965
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Red hair, Fair hair, Blue irides OMIM:614613
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Renal tubular acidosis, Dysmenorrhea, Irregular menstruation, Oligomenorrhea, ... ORPHA:264580
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Ataxia, Osteopenia, Abnormality of the dentition, Long philtrum, Ureteral stenosis, ... OMIM:615398
X-Linked Intellectual Disability, Cabezas Type
High palate, Wide mouth, Broad-based gait, Hypoplasia of penis, Open bite, Cachexia, Camptodactyl... ORPHA:85293
Insulinoma
Neoplasm of the adrenal gland, Neuroendocrine neoplasm, Primary hyperparathyroidism, Increased bo... ORPHA:97279
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Cryptorchidism, External genital hypoplasia, Hypogonadism ORPHA:363741
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Retinopathy, Elevated hemogl... ORPHA:552
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Wide mouth, Hirsutism, Abnormal hair whorl, Micropenis, Thin vermilion border, Downturned corners... OMIM:300860
Angelman Syndrome
Broad-based gait, Wide mouth, Precocious puberty in females, Ataxia, Poor eye contact, Fair hair,... ORPHA:72
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Wide mouth, Ataxia, Broad-based gait, Hypopigmentation of hair, Abnormal eating b... ORPHA:411511
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Decreased fertility in males, Tall... ORPHA:1359
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Nephropathy, Abnormality o... OMIM:194072
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Micropenis, Hypogonadotropic hypogonadism, Primary a... OMIM:619326
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Proprotein Convertase 1/3 Deficiency
Malabsorption, Hypogonadotropic hypogonadism, Primary amenorrhea, Villous atrophy, Obesity OMIM:600955
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Treacher Collins Syndrome 1
Wide mouth, Narrow mouth, Cleft palate, Cryptorchidism, Abnormal parotid gland morphology, Cleft ... OMIM:154500
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... ORPHA:999
Niemann-Pick Disease Type C
Narcolepsy, Ataxia, Cognitive impairment, Mental deterioration, Abnormal social behavior, Progres... ORPHA:646
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... ORPHA:79431
Igg4-Related Ophthalmic Disease
Prostatitis, Orchitis, Sialadenitis, Non-Hodgkin lymphoma, Neoplasm of the lung, Lymphoma, Colon ... ORPHA:449563
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Dental crowding, Multiple exostoses, Nephroblastoma, Polyphagia, Proteinuria, Decreased testicula... OMIM:612469
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hypopigmentation of hair ORPHA:70472
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Increa... OMIM:274300
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... OMIM:203100
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... ORPHA:3440
Sarcoidosis, Susceptibility To, 1
Bone cyst, Hypercalciuria, Abnormal salivary gland morphology, Arthritis, Inflammation of the lar... OMIM:181000
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Nephrolithiasis, Pituitary adenoma, Hirsutism, Oligomenorrhea, Osteoporosis, O... OMIM:219090
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair, Hyperphenylalaninemia ORPHA:79254
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Progressive neurologic deterioration ORPHA:276608
Adrenocortical Carcinoma
Lung adenocarcinoma, Hypertrichosis, Adrenocorticotropic hormone deficiency, Adrenocortical carci... ORPHA:1501
Bardet-Biedl Syndrome
Generalized hirsutism, Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Multicys... ORPHA:110
Hepatic Veno-Occlusive Disease
Increased body weight, Renal insufficiency ORPHA:890
7Q11.23 Microduplication Syndrome
High palate, Craniosynostosis, Short philtrum, Horizontal eyebrow, Long eyelashes, Unsteady gait,... ORPHA:96121
Cushing Disease
Amenorrhea, Abdominal obesity, Hirsutism, Sparse scalp hair, Intra-oral hyperpigmentation, Oligom... ORPHA:96253
African Trypanosomiasis
Infertility, Narcolepsy, Impotence, Abnormal prolactin level, Akinesia, Alopecia, Abnormality of ... ORPHA:3385
Carney Complex, Type 1
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair OMIM:160980
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Abnormality of the dentition, Oral cleft, Synophrys, Increased body... OMIM:182290
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Secondary amenorrhe... ORPHA:99889
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Reduced circulating prolactin concentration, Decreased response t... ORPHA:79444
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Progressive psychomotor deterioration, Craniosynostosis, Macroscopic hematur... ORPHA:251004
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Macular edema, Retinal neovascularization, Normocytic anemi... ORPHA:247691
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Reduced circulating prolactin concentration, Reduced bone mineral... ORPHA:79443
Bardet-Biedl Syndrome 1
Abdominal obesity, High palate, Hirsutism, Dental crowding, Gait imbalance, High, narrow palate, ... OMIM:209900
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Failure to thrive, Generalized hyperpigmentation, Nail dystrophy, Generalized ... ORPHA:3322
45,X/46,Xy Mixed Gonadal Dysgenesis
High palate, Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Horseshoe kidney, Ab... ORPHA:1772
Ulnar-Mammary Syndrome
Ectopic anus, Anal atresia, Hypoplasia of penis, Hypodontia, Camptodactyly of finger, Absent axil... ORPHA:3138
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Sheehan Syndrome
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Dyspareunia, Reduced circulating p... ORPHA:91355
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Alopecia, Osteopenia, Osteoporosis, Adrenal hyperplasia, Increased body weight OMIM:615830
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair OMIM:618541
Waardenburg Syndrome, Type 4C
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613266
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... ORPHA:3214
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Glycosuria, Progressive neurologic deterioration, Large for gestational... ORPHA:263455
Salivary Duct Calculi
Parotitis OMIM:181010
Sotos Syndrome
High palate, Narrow palate, High, narrow palate, Tall stature, Sparse eyebrow, Advanced eruption ... OMIM:117550
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Hypohidrotic Ectodermal Dysplasia
Failure to thrive, Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of the... ORPHA:238468
Meningioma
Ataxia, Impotence, Neoplasm of the posterior pituitary, Spinal meningioma, Increased circulating ... ORPHA:2495
Partial Deletion Of The Short Arm Of Chromosome 7
Flexion contracture of thumb, Thick eyebrow, Cleft palate, Hypospadias, Lack of peer relationship... ORPHA:261911
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Macronodular adrenal hyperplasia, Osteoporosis, Increased body weight, Increas... OMIM:615954
Blau Syndrome
Limitation of joint mobility, Clear cell renal cell carcinoma, Camptodactyly of finger, Xerostomi... ORPHA:90340
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Increased circulating prolactin concentr... ORPHA:54595
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Broad-based gait, Wide mouth, Joint contracture of the hand, Sparse hair, Cleft palate, Short phi... OMIM:280000
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98795
Gist-Plus Syndrome
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor OMIM:175510
Lacrimoauriculodentodigital Syndrome
Aplasia of the parotid gland, Hypodontia, Absence of Stensen duct, Xerostomia, Carious teeth, Lac... OMIM:149730
1P36 Deletion Syndrome
Pyloric stenosis, Horizontal eyebrow, Hypogonadism, Joint stiffness, Hypoplasia of penis, Long ph... ORPHA:1606
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity, Primary amenorrhea ORPHA:319675
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Obesity ORPHA:98794
Blue Diaper Syndrome
Increased body weight, Elevated circulating thyroid-stimulating hormone concentration, Nephrocalc... ORPHA:94086
Williams Syndrome
Cholelithiasis, Wide mouth, Gait imbalance, Ataxia, Abnormal social behavior, Osteopenia, Tracheo... ORPHA:904
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Female infertility, Alopecia, Osteopenia, Abnormality of the dentition, Primary amen... ORPHA:99413
Turner Syndrome
High palate, Female infertility, Alopecia, Osteopenia, Abnormality of the dentition, Primary amen... ORPHA:881
Mosaic Monosomy X
High palate, Female infertility, Alopecia, Osteopenia, Abnormality of the dentition, Primary amen... ORPHA:99228
Monosomy X
High palate, Female infertility, Alopecia, Osteopenia, Abnormality of the dentition, Primary amen... ORPHA:99226
Brittle Cornea Syndrome 1
Red hair OMIM:229200
1P21.3 Microdeletion Syndrome
Wide mouth, Abnormal eating behavior, Shyness, Joint hypermobility, Obesity ORPHA:293948
Syndromic Diarrhea
Woolly hair, Brittle hair, Generalized hypopigmentation, Small for gestational age, Hypopigmentat... ORPHA:84064
Chediak-Higashi Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Silver-gray hair, Giant ... OMIM:214500
Hermansky-Pudlak Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... ORPHA:79430
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Spotty hyperpigmentation, Abnormality of retinal pi... ORPHA:167
Vici Syndrome
Failure to thrive, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:242840
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
High palate, Wide mouth, Tented upper lip vermilion, Open mouth, Hypogonadism, Widely-spaced maxi... OMIM:309580
Sarcoidosis
Nephrolithiasis, Bone cyst, Alopecia, Hypercalciuria, Tubulointerstitial nephritis, Enlarged lacr... ORPHA:797
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Kikuchi-Fujimoto Disease
Ataxia, Alopecia, Enlargement of parotid gland, Oral ulcer, Weight loss ORPHA:50918
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Heterochromia iridis, Premature graying of... ORPHA:163746
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Retinal pigment epitheli... OMIM:219800
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Fair hair, Blue irides, Hyperphosphatemia, Obesity, Red hair ORPHA:280651
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Coarse hair, Dry hair, Widow's peak ORPHA:1974
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Prader-Willi Syndrome Due To Translocation
Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hyp... ORPHA:177907
Prader-Willi Syndrome
Hypopigmentation of the skin, Failure to thrive, Abdominal obesity, Hypopigmentation of hair ORPHA:739
Degcags Syndrome
Abnormal eyebrow morphology, Hypertrichosis, Low anterior hairline, Failure to thrive, Hyperbilir... OMIM:619488
Alström Syndrome
Ataxia, Decreased fertility in males, Hypergonadotropic hypogonadism, Hyoplasia of the Leydig cel... ORPHA:64
Menkes Disease
Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Hellp Syndrome
Increased body weight, Acute kidney injury, Proteinuria, Hemoglobinuria ORPHA:244242
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Elevated 7-dehydrocholesterol, Abnormal eyelash morphology ORPHA:818
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.

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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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