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Gene: Pin1 MGI:1346036

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

peptidyl-prolyl cis/trans isomerase, NIMA-interacting 1

Synonyms:

D9Bwg1161e, 0610025L01Rik

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 Pin1 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.

Human diseases associated with Pin1 (0 diseases)
Human diseases predicted to be associated with Pin1 (196 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pin1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Amyloidosis, Cutaneous Bullous	Amyloidosis	OMIM:204900
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Amyloidosis, Primary Localized Cutaneous, 2	Cutaneous amyloidosis	OMIM:613955
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con...	ORPHA:52901
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Myeloma, Multiple	Amyloidosis	OMIM:254500
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia	ORPHA:397685
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o...	OMIM:618086
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Sparse pubic hair, Male hypogonadism, Abnormality of the Leydig cells, Decreased circulating dihy...	OMIM:228300
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Hypogonadism, Male	Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis	OMIM:241100
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Obesity, Low posterior hairline, Sparse facial hair, Absent facial hair, Abnormality...	ORPHA:2183
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Morbid Obesity And Spermatogenic Failure	Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility	OMIM:615703
Adrenal Hypoplasia, Congenital	Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu...	OMIM:300200
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I...	ORPHA:432
Young Syndrome	Azoospermia	OMIM:279000
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula...	OMIM:308700
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Amyloidosis	OMIM:204850
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
46,Xy Partial Gonadal Dysgenesis	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,...	ORPHA:251510
Partial Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ...	ORPHA:90797
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Male i...	ORPHA:3000
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea	OMIM:602390
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Variant Abeta2M Amyloidosis	Renal amyloidosis, Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, ...	ORPHA:314652
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Low posterior hairline, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Congenital stationary night blindness, Micropenis, Incre...	ORPHA:8
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:99330
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu...	OMIM:278850
Amyloidosis, Primary Localized Cutaneous, 1	Cutaneous amyloidosis	OMIM:105250
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea	OMIM:184700
Aromatase Deficiency	Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:613546
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Low posterior hairline, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal ...	ORPHA:261519
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Acys Amyloidosis	Amyloidosis, Cerebral amyloid angiopathy	ORPHA:100008
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Premature graying of hair, Decreased response to growth hormone stimulation test, Decreased testi...	ORPHA:280679
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia	ORPHA:2795
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
46,Xx Sex Reversal 1	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Azoospermia, True hermaphro...	OMIM:400045
Hemochromatosis, Type 1	Alopecia, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, ...	OMIM:235200
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon...	ORPHA:206484
48,Xxyy Syndrome	Decreased testicular size, Azoospermia, Obesity, Type II diabetes mellitus, Cryptorchidism, Infer...	ORPHA:10
48,Xyyy Syndrome	Male hypogonadism, Primary gonadal insufficiency, Azoospermia	ORPHA:99329
Kallmann Syndrome With Spastic Paraplegia	Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cry...	OMIM:308750
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh...	ORPHA:2232
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Precocious puberty, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Cerebral Amyloid Angiopathy, Cst3-Related	Generalized amyloid deposition	OMIM:105150
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia, Absent outer dynein arms	OMIM:618300
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O...	ORPHA:314478
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir...	OMIM:615724
Ring Chromosome 21 Syndrome	Amenorrhea, Azoospermia, Diabetes insipidus, Infertility	ORPHA:1445
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate...	OMIM:614324
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor...	ORPHA:1772
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Premature graying of hair, Decreased response to ...	OMIM:300845
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
48,Xxxy Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Obesity, Type II diabetes me...	ORPHA:96263
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla...	ORPHA:3130
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Ab...	ORPHA:251066
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Amyloidosis, Hereditary Systemic 2	Generalized amyloid deposition, Renal amyloidosis	OMIM:105200
49,Xxxxy Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C...	ORPHA:96264
46,Xy Sex Reversal 7	Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon...	OMIM:233420
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea	ORPHA:247768
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus...	ORPHA:300298
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Alzheimer Disease 4	Neurofibrillary tangles, Cerebral amyloid angiopathy	OMIM:606889
H Syndrome	Alopecia, Hypertrichosis, Hypogonadism, Abnormal eyebrow morphology, Azoospermia, Decreased testi...	ORPHA:168569
Ring Chromosome 22 Syndrome	Azoospermia, Thick eyebrow	ORPHA:1446
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a...	ORPHA:3109
Bloom Syndrome	Hypertrichosis, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Decreased fertility in fe...	OMIM:210900
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Bloom Syndrome	Azoospermia, Retinopathy, Sparse eyelashes, Patchy alopecia, Oligozoospermia, Abdominal obesity, ...	ORPHA:125
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Cerebral amyloid angiopathy	OMIM:117300
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves	ORPHA:282166
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Frontal balding, Hypogonadism	OMIM:160900
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Hypothyroidism, Testicular atrophy, Diabetes insipidus, Di...	OMIM:222300
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Bone Marrow Failure Syndrome 5	Testicular atrophy, Nail dystrophy, Hypogonadism	OMIM:618165
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr...	OMIM:305400
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Cerebral amyloid angiopathy	OMIM:176500
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen...	ORPHA:465508
Palmoplantar Carcinoma, Multiple Self-Healing	Amyloidosis, Cutaneous macular amyloidosis	OMIM:615225
Amyloidosis, Finnish Type	Generalized amyloid deposition, Renal glomerular amyloid deposition, Cardiac amyloidosis	OMIM:105120
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Nail dystrophy	OMIM:613987
Abeta Amyloidosis, Dutch Type	Cerebral amyloid angiopathy	ORPHA:100006
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c...	ORPHA:786
Aa Amyloidosis	Renal amyloidosis, Amyloidosis	ORPHA:85445
Fanconi Anemia	Abnormality of the hypothalamus-pituitary axis, Abnormality of the uterus, Hypogonadism, Azoosper...	ORPHA:84
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation...	OMIM:602782
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis	ORPHA:722
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Idiopathic Trachyonychia	Amyloidosis	ORPHA:79153
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Fai...	ORPHA:534
Aapoaiv Amyloidosis	Cutaneous amyloidosis, Renal interstitial amyloid deposits, Renal amyloidosis, Cardiac amyloidosis	ORPHA:439232
Cerebral Amyloid Angiopathy, App-Related	Cerebral amyloid angiopathy	OMIM:605714
Periodic Fever, Familial, Autosomal Dominant	AA amyloidosis, Hepatic amyloidosis	OMIM:142680
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Azoospermia, Cachexia, Papilledema, Delayed puberty	ORPHA:2072
Bardet-Biedl Syndrome 1	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Vaginal atresia, Micropenis	OMIM:209900
Amyloidosis, Hereditary Systemic 1	Amyloidosis	OMIM:105210
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Cutaneous amyloidosis	OMIM:301220
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Hypospadias,...	ORPHA:3063
Familial Mediterranean Fever	Renal amyloidosis, Amyloidosis	OMIM:249100
Systemic Mastocytosis With Associated Hematologic Neoplasm	Amyloidosis	ORPHA:98849
Steinert Myotonic Dystrophy	Male hypogonadism, Cholelithiasis, Impotence, Alopecia, Decreased response to growth hormone stim...	ORPHA:273
Q Fever	Amyloidosis	ORPHA:781
Turner Syndrome Due To Structural X Chromosome Anomalies	Female infertility, Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Increased circu...	ORPHA:99413
Turner Syndrome	Female infertility, Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Increased circu...	ORPHA:881
Mosaic Monosomy X	Female infertility, Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Increased circu...	ORPHA:99228
Monosomy X	Female infertility, Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Increased circu...	ORPHA:99226
Familial Mediterranean Fever	Amyloidosis	ORPHA:342
Alkaptonuria	Amyloidosis	ORPHA:56

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 Pin1

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 Pin1.

No publications found that use IMPC mice or data for Pin1.

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MGI Allele	Allele Type	Produced
Pin1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pin1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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