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Gene: Ptov1 MGI:1933946

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Gene Summary

Name:
prostate tumor over expressed gene 1
Synonyms:
Gcap3,  1110030G05Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
edema Ptov1em1(IMPC)Bay HOM E18.5 0.00
hemorrhage Ptov1em1(IMPC)Bay HOM E18.5 0.00
cleft palate Ptov1em1(IMPC)Bay HOM E18.5 0.00
facial cleft Ptov1em1(IMPC)Bay HOM E18.5 0.00
abnormal facial morphology Ptov1em1(IMPC)Bay HOM E18.5 0.00
polydactyly Ptov1em1(IMPC)Bay HOM E18.5 0.00
abnormal body wall morphology Ptov1em1(IMPC)Bay HOM E18.5 0.00
abnormal embryo size Ptov1em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Ptov1em1(IMPC)Bay HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Ptov1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Ptov1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Acrofacial Dysostosis, Weyers Type
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Facial cleft... ORPHA:952
Facial Clefting, Oblique, 1
Deep palmar crease, Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Facial cl... OMIM:601357
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Oculomaxillofacial Dysostosis
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... ORPHA:1794
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Anophthalmia Plus Syndrome
Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft lip and palate, ... ORPHA:1104
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Fryns Microphthalmia Syndrome
Neural tube defect, Facial cleft, Bilateral cleft lip and palate OMIM:600776
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Brachydactyly, Inguinal hernia, Abnormality of the dentition, Carious teeth, S... ORPHA:1786
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Facial cleft, Small thenar eminence, Short 5th... OMIM:239800
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Facial cleft, Cleft p... OMIM:607597
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Facial cleft, High palate, Widely spaced teeth, Solitary median maxil... ORPHA:66625
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology ORPHA:294975
Constricting Bands, Congenital
Omphalocele, Syndactyly, Encephalocele, Cleft upper lip, Facial cleft, Cleft palate, Hand polydac... OMIM:217100
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... OMIM:619110
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... OMIM:617927
Frontonasal Dysplasia 3
Facial cleft, Cleft palate OMIM:613456
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication OMIM:223200
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Mosaic Trisomy 9
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Intestinal malrotatio... ORPHA:99776
Unilateral Ocular Duplication
Encephalocele, Median cleft lip, Polyhydramnios, Midline facial cleft, Cleft palate ORPHA:3374
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly OMIM:615984
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Supernumerary Nostril
Facial cleft ORPHA:141096
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... OMIM:249710
3Mc Syndrome 3
Cleft upper lip, Preaxial polydactyly, Facial cleft, Cleft palate, Radioulnar synostosis, Clinoda... OMIM:248340
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... ORPHA:1350
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... DECIPHER:46
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Frontofacionasal Dysplasia
Encephalocele, Non-midline cleft lip, Facial cleft, Cleft palate ORPHA:1791
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... OMIM:258860
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... ORPHA:957
Bartsocas-Papas Syndrome 1
Hypoplastic iliac wing, Short phalanx of finger, Syndactyly, Short metacarpal, Cleft upper lip, S... OMIM:263650
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Cleft upper lip, Midline facial cleft, Preaxial polydactyly, Preaxial ... OMIM:603671
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Oligohydramnios OMIM:615397
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... OMIM:614091
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Lip pit, Tapered finger, Facial cleft, Hypodontia, Broad thumb, Abnormal... ORPHA:1236
Mycophenolate Mofetil Embryopathy
Facial cleft, Tracheoesophageal fistula, Orofacial cleft, Hydrops fetalis, Foot polydactyly, Shor... ORPHA:268249
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Cleft palate, Split foot OMIM:183700
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... ORPHA:2631
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly OMIM:615982
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Lymphedema, Triangular mouth, Flattened ep... OMIM:607131
Meckel Syndrome, Type 2
Omphalocele, Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... OMIM:603194
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly OMIM:612913
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... ORPHA:65759
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... ORPHA:2756
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Orofaciodigital Syndrome Xvii
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... OMIM:617926
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ... ORPHA:861
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft p... OMIM:614815
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Cleft upper lip, Pericardial effusion, Cleft palate, Poly... OMIM:613885
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... OMIM:617102
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... ORPHA:90650
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... ORPHA:3098
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... OMIM:602418
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Inguinal hernia, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Small pla... ORPHA:397590
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... ORPHA:1856
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Facial cleft, Cleft palate, Finger clinodactyly, Pectoral muscle hypopla... ORPHA:306542
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger ORPHA:231140
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Micromelia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossific... ORPHA:93271
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Po... OMIM:607361
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... OMIM:311300
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... OMIM:147891
Mohr Syndrome
Syndactyly, Median cleft lip, Accessory oral frenulum, Preaxial hand polydactyly, Postaxial hand ... OMIM:252100
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph... ORPHA:85166
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Joubert Syndrome 10
Deep philtrum, Thick vermilion border, Postaxial polydactyly OMIM:300804
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... OMIM:277170
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Inguinal hernia, Single transverse palmar crease, Thick lower lip vermi... OMIM:618950
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ... OMIM:615761
Multiple Epiphyseal Dysplasia Type 4
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... ORPHA:93307
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... ORPHA:435638
Hydrolethalus Syndrome 2
Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, Preaxial foot ... OMIM:614120
Pelger-Huet Anomaly
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd... OMIM:169400
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... OMIM:613091
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Frontonasal Dysplasia 2
Encephalocele, Tessier number 13 facial cleft, Conical tooth, Widely spaced teeth, Intrauterine g... OMIM:613451
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Clinodactyly, Hypoplastic pubic bone,... OMIM:184250
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Dental crowd... OMIM:219000
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Polyhydramnios, Postaxial polydactyly, Brachydactyly OMIM:615633
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... ORPHA:544254
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Edema, Cleft lip, Partial duplica... OMIM:618348
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, High... OMIM:618142
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... OMIM:174300
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ove... OMIM:616738
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt... OMIM:619142
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... ORPHA:313781
Lethal Acantholytic Erosive Disorder
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Impaired myocardial cont... ORPHA:158687
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Atelosteogenesis Type Ii
Micromelia, Polyhydramnios, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the ha... ORPHA:56304
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Short metatarsal, Oligodontia, High palate, Short palm, Clinodactyly of the 5th ... OMIM:170390
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Polydactyly, Hypoplastic ischia OMIM:616910
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s... ORPHA:404440
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Downturned corn... OMIM:613792
Congenital Sialidosis Type 2
Abnormal EKG, Inguinal hernia, Edema, Protruding tongue, Gingival overgrowth, Telangiectasia, Pol... ORPHA:93400
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... OMIM:200990
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Orofaciodigital Syndrome Type 2
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... ORPHA:2751
Schisis Association
Omphalocele, Encephalocele, Micromelia, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cle... ORPHA:63862
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals OMIM:615996
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Polydactyly, Smooth philtrum OMIM:602501
Nephronophthisis 15
Polydactyly OMIM:614845
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Encephalocele, Synostosis... ORPHA:90652
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... OMIM:268305
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly OMIM:600151
Schneckenbecken Dysplasia
Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Snail... OMIM:269250
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cleft palate, Hand polydactyly, Ab... ORPHA:2167
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema, Cleft palate OMIM:153200
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the r... OMIM:617895
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... OMIM:165590
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Single transve... OMIM:247200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Natal tooth, Encephalocele, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, ... OMIM:616300
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... ORPHA:2754
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly OMIM:617120
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d... OMIM:616331
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... OMIM:311200
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... OMIM:619721
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate, Cleft upper lip OMIM:179400
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... ORPHA:1106
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... OMIM:617866
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Hogue-Janssen Syndrome 2
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hip dysplasia, Deviation of the ... OMIM:616362
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Meningocele, Cleft palate, Intr... OMIM:614424
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo... OMIM:615503
Isolated Arrhinia
Facial cleft ORPHA:1134
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab... ORPHA:2879
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Rhombencephalosynapsis
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact... ORPHA:59315
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Joubert Syndrome 23
Polydactyly OMIM:616490
Retinitis Pigmentosa 89
Esophageal varix, Postaxial polydactyly OMIM:618955
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongu... OMIM:616546
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... OMIM:619879
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Bardet-Biedl Syndrome 1
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P... OMIM:209900
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Anal... OMIM:607323
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Hip dysplasia, Abnormal tongue morphology, Polydactyly ORPHA:531151
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pi... ORPHA:2886
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Esophageal varix, Hip dysplasia, Inflammation of the large intestine, Peau... OMIM:614576
Cranioectodermal Dysplasia 2
Syndactyly, Inguinal hernia, Rhizomelia, Polyhydramnios, Postaxial hand polydactyly, Hydrops feta... OMIM:613610
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... OMIM:615873
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda... OMIM:617527
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios OMIM:615824
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand, Hip dislocation,... OMIM:300968
Pseudoaminopterin Syndrome
Brachydactyly, Inguinal hernia, Overlapping toe, Single transverse palmar crease, Limited elbow m... ORPHA:221120
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Meckel Syndrome, Type 1
Occipital encephalocele, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial foot polydactyl... OMIM:249000
Catel-Manzke Syndrome
Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... OMIM:616145
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Tricuspid regurgitation, Intestinal malrotation, Hamartoma of tongue, Preaxial ... OMIM:263520
Holoprosencephaly 1
Facial cleft, Median cleft lip and palate OMIM:236100
Kinsship Syndrome
Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Thick lower lip vermilion,... OMIM:619297
Cerebrooculonasal Syndrome
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Narrow palate, Cleft palate, Do... OMIM:605627
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Dental malocclusion, Cl... OMIM:616580
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, Abnormal pelvic g... OMIM:302960
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft upper lip, Palmar... OMIM:109400
Joubert Syndrome 37
High palate, Postaxial polydactyly OMIM:619185
Adnp Syndrome
Thin upper lip vermilion, Inguinal hernia, Broad hallux, Single transverse palmar crease, Sandal ... ORPHA:404448
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Hypoplasia... OMIM:614099
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Culler-Jones Syndrome
Cleft palate, Postaxial polydactyly, Cleft upper lip OMIM:615849
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly ORPHA:314655
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Rubinstein-Taybi Syndrome 1
Dental crowding, Single transverse palmar crease, Polyhydramnios, High, narrow palate, High palat... OMIM:180849
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Polyd... OMIM:301022
Rabson-Mendenhall Syndrome
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... ORPHA:769
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Carpenter Syndrome 2
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ... OMIM:614976
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... ORPHA:352665
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Prea... OMIM:617925
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, High palate, Overla... OMIM:300960
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Polyhydramnios, Postaxial hand ... OMIM:617088
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Pyloric stenosis, Oligohydra... ORPHA:464306
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Gingi... OMIM:312870
Pallister-Hall Syndrome
Bifid uvula, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cleft lip, Umbilical ... ORPHA:672
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Aortic regurgitation, Inguinal hernia, Cleft soft palate, Tapered finger, Abnormal... ORPHA:268261
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Orofaci... ORPHA:77301
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Degcags Syndrome
Polyhydramnios, High palate, Intrauterine growth retardation, Syndactyly, Hiatus hernia, Short th... OMIM:619488
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg sh... ORPHA:397715
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Postaxial polydactyly OMIM:603387
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Polyhydramnios, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talo... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Polyhydramnios, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talo... ORPHA:353277
Okamoto Syndrome
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intesti... ORPHA:2729
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Postaxial polydactyly OMIM:219730
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Congenital hip dislocation, Abnormal periodontium morphology, High palate, Tapered finger, Gingiv... ORPHA:480880
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Preaxial polydactyly, Cleft palate, Wide mouth, Duodenal... OMIM:243605
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Tented upper lip vermilion, Postaxial polydactyly, Triangular mouth, Int... OMIM:618460
Orofaciodigital Syndrome Xiv
Natal tooth, Occipital encephalocele, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial han... OMIM:615948
Faciocardiomelic Syndrome
Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtrum OMIM:612731
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Broad hallux, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th fing... ORPHA:457284
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Orofacial cleft, Polydactyly, Hypertrophic cardiomyopathy ORPHA:17
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Joubert Syndrome 39
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Loeys-Dietz Syndrome 2
Syndactyly, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinoph... OMIM:610168
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:619471
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Syndactyly, Inguinal hernia, Tricuspid regurgitation, Left-to-right shunt, ... OMIM:619534
Choanal Atresia
Polydactyly ORPHA:137914
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Esophageal atresia... OMIM:192350
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Neurocardiofaciodigital Syndrome
Syndactyly, Thin vermilion border, High palate, Polydactyly OMIM:619869
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Legius Syndrome
Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Clinodactyly... ORPHA:137605
Craniofacial Microsomia 1
Occipital encephalocele, Cleft upper lip, Partial duplication of thumb phalanx, Cleft palate, Gen... OMIM:164210
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Abnormal digit morphology, Hypotension, Median cleft lip and palate ORPHA:95494

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 Ptov1

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 Ptov1.

No publications found that use IMPC mice or data for Ptov1.

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
Ptov1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ptov1em1(IMPC)Bay Exon Deletion Mice
Ptov1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ptov1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptov1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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