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Gene: Prepl MGI:2441932

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Gene Summary

Name:
prolyl endopeptidase-like
Synonyms:
D030028O16Rik,  9530014L06Rik,  2810457N15Rik

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
absent optic nerve Preplem1(IMPC)H HOM Early adult 0.00
narrow eye opening Preplem1(IMPC)H HOM   Early adult 1.17×10-05
eyelids fail to open Preplem1(IMPC)H HOM   Early adult 8.84×10-06
abnormal gait Preplem1(IMPC)H HOM Early adult 2.87×10-06
preweaning lethality, incomplete penetrance Preplem1(IMPC)H HOM   Early adult 0.00

Download data as:  TSV  XLS

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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.

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MicroCT E18.5

Embryo reconstruction

4 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myasthenic Syndrome, Congenital, 22
Waddling gait, Ptosis OMIM:616224
Hypotonia-Cystinuria Syndrome
Growth delay, Failure to thrive, Hypotonia ORPHA:163690
2P21 Microdeletion Syndrome
Growth delay, Failure to thrive, Hypotonia ORPHA:163693

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ataxia-Oculomotor Apraxia Type 1
Medial flaring of the eyebrow, Ataxia, Gait disturbance ORPHA:1168
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
2p15-16.1 microdeletion syndrome
Optic disc hypoplasia, Telecanthus, Downslanted palpebral fissures, Ptosis DECIPHER:70
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re... OMIM:615113
Joubert Syndrome 40
Almond-shaped palpebral fissure, Optic nerve hypoplasia OMIM:619582
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Epicanthus, Anophthalmia, Downslanted palpebral fissures, Ptosis ORPHA:264200
Silver-Russell Syndrome Due To 11P15 Microduplication
Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt... ORPHA:231144
Nabais Sa-De Vries Syndrome, Type 1
Epicanthus, Telecanthus, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Narrow palpebr... OMIM:618828
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Optic nerve hypoplasia, Dysmetria, Gait ataxia OMIM:614306
Combined Oxidative Phosphorylation Deficiency 17
Postnatal growth retardation, Intrauterine growth retardation, Failure to thrive, Hypotonia OMIM:615440
5Q14.3 Microdeletion Syndrome
Upslanted palpebral fissure, Optic nerve hypoplasia, Thick eyebrow ORPHA:228384
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Downslanted palpebral fissures, Optic nerve hypoplasia OMIM:613638
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Optic nerve hypoplasia, Optic atrophy, Gait ataxia, Upslanted palpe... ORPHA:496790
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis OMIM:618736
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectasia, Upslan... OMIM:620157
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Downslanted palpebral fissures, Optic nerve hypoplasia ORPHA:137634
X-Linked Intellectual Disability, Najm Type
Gait disturbance, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Eyelid coloboma, Bilateral microphthalmos, Optic nerve hypoplasia, Telecanthus OMIM:607597
Trichothiodystrophy 5, Nonphotosensitive
Broad-based gait, Retinal dystrophy, Optic nerve hypoplasia, Sparse eyebrow, Gait ataxia OMIM:300953
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia, Synophrys, Long eyelashes, Horizontal eyebrow, Thick eyebrow OMIM:618381
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Optic nerve hypoplasia, Ptosis OMIM:615280
Tatton-Brown-Rahman Syndrome
Epicanthus, Optic nerve hypoplasia, Narrow palpebral fissure, Horizontal eyebrow, Blepharophimosi... OMIM:615879
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Optic Atrophy 11
Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial diplegia, Athetosi... OMIM:617302
Optic Atrophy-Intellectual Disability Syndrome
Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Upslanted palpebral fis... ORPHA:401777
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Epicanthus, Optic nerve hypoplasia, Upslanted palpebral fissure, Narrow palpebral fissure, Long p... ORPHA:363686
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Progressive sp... ORPHA:309246
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Optic nerve hypoplasia OMIM:615181
2P15P16.1 Microdeletion Syndrome
Epicanthus, Telecanthus, Facial palsy, Optic nerve hypoplasia, Sparse eyebrow, Optic atrophy, Lon... ORPHA:261349
Spastic Paraplegia 54, Autosomal Recessive
Telecanthus, Optic nerve hypoplasia OMIM:615033
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Chromosome 2P16.1-P15 Deletion Syndrome
Telecanthus, Epicanthus, Optic nerve hypoplasia, Blepharophimosis, Downslanted palpebral fissures... OMIM:612513
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Rabin-Pappas Syndrome
Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectasia, Upslan... OMIM:620155
Bresek Syndrome
Neonatal death, Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia ORPHA:85284
Aniridia 1
Hypoplasia of the fovea, Optic nerve hypoplasia, Bilateral ptosis, Hypoplasia of the iris, Chorio... OMIM:106210
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature OMIM:618160
Squalene Synthase Deficiency
Epicanthus, Optic nerve hypoplasia OMIM:618156
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Epicanthus, Optic nerve hypoplasia, Bilateral ptosis, Inability to walk, Congenit... ORPHA:300570
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, A... ORPHA:141099
19P13.13 Microdeletion Syndrome
Epicanthus, Optic nerve hypoplasia, Optic atrophy, Long eyelashes, Downslanted palpebral fissures ORPHA:357001
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... ORPHA:447788
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha... OMIM:606519
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Retinal detachment, Optic atrophy, Optic nerve hypoplasia ORPHA:370959
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Epicanthus, Optic nerve hypoplasia, Retinal coloboma, Downslanted palpebral fi... OMIM:300749
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Telecanthus, Downslanted palpebral fissures, Optic nerve hypoplasia OMIM:301056
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
White-Sutton Syndrome
Waddling gait, Optic nerve hypoplasia, Upslanted palpebral fissure, Rod-cone dystrophy, Downslant... OMIM:616364
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Optic nerve hypoplasia OMIM:617864
Fg Syndrome Type 1
Broad-based gait, Downslanted palpebral fissures, Optic nerve hypoplasia ORPHA:93932
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
16Q24.3 Microdeletion Syndrome
Upslanted palpebral fissure, Optic nerve hypoplasia, Highly arched eyebrow ORPHA:261250
Congenital Fibrosis Of Extraocular Muscles
Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Optic nerve hyp... ORPHA:45358
Verheij Syndrome
Optic nerve hypoplasia OMIM:615583
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Ataxia, Lacrimal duct stenosis, Optic nerve hypoplasia, Palpebral edema, Dermatochalasis ORPHA:221139
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia ORPHA:572013
Cerebrooculonasal Syndrome
Epicanthus, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Sparse eyebrow, Ptosis OMIM:605627
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ptosis, Epicanthus, Lacrimal duct stenosis, Optic nerve hypoplasia, Highly arched eyebrow, Upslan... OMIM:617506
Myasthenic Syndrome, Congenital, 22
Waddling gait, Ptosis OMIM:616224
Acromelic Frontonasal Dysostosis
Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Downslanted palpebr... OMIM:603671
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:3157
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Optic nerve hypoplasia, Sparse eyebrow, Synophrys, Keratoconjunctivitis sicca, ... ORPHA:495875
Hypotonia-Cystinuria Syndrome
Growth delay, Failure to thrive, Hypotonia ORPHA:163690
Rhizomelic Chondrodysplasia Punctata, Type 2
Optic nerve hypoplasia OMIM:222765
D-Glyceric Aciduria
Optic nerve hypoplasia OMIM:220120
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Optic nerve hypoplasia, Shallow orbits OMIM:620029
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Facial palsy, Optic nerve hypoplasia, Almond-shaped palpebral fissure, Abnorma... ORPHA:508498
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Inability to walk, Abnormal optic nerve morphology, Shallow orbits, Long ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Inability to walk, Abnormal optic nerve morphology, Shallow orbits, Long ... ORPHA:352665
Stromme Syndrome
Retinal vascular tortuosity, Microphthalmia, Stillbirth, Optic nerve hypoplasia OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Retinal vascular malfor... ORPHA:42775
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Optic nerve hypoplasia, Bilateral microphthalmos, Abnormality of the orbital r... ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia, Mi... OMIM:236670
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
2P21 Microdeletion Syndrome
Growth delay, Failure to thrive, Hypotonia ORPHA:163693
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Retinal dystrophy, Hypoplasia of eyelid, Optic nerve hypoplasia OMIM:619321
Marshall-Smith Syndrome
Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Shallow orbits, Thick eyebrow OMIM:602535
Spondylodysplastic Ehlers-Danlos Syndrome
Optic disc coloboma, Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis ORPHA:536471
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Upper eyelid entropion ORPHA:457284
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Epicanthus, Telecanthus, Broad-based gait, Optic nerve hypoplasia, Upslanted palpebral fissure, N... OMIM:620330
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Ataxia ORPHA:59315
Asparagine Synthetase Deficiency
Optic nerve hypoplasia OMIM:615574
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Diaphragmatic Hernia 4, With Cardiovascular Defects
Downslanted palpebral fissures, Optic nerve hypoplasia OMIM:620025
8Q24.3 Microdeletion Syndrome
Epicanthus, Optic nerve hypoplasia, Highly arched eyebrow, Bilateral microphthalmos, Upslanted pa... ORPHA:508488
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:3301
Chilton-Okur-Chung Neurodevelopmental Syndrome
Septo-optic dysplasia, Hooded eyelid, Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Sy... OMIM:619841
Hydranencephaly
Chorioretinal atrophy, Optic nerve hypoplasia ORPHA:2177
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Epicanthus, Optic nerve hypoplasia, Sparse eyebrow, Optic atrophy, Downslanted palpebral fissures... ORPHA:500150
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia OMIM:301043
Baller-Gerold Syndrome
Epicanthus, Optic atrophy, Downslanted palpebral fissures, Optic nerve hypoplasia OMIM:218600
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia OMIM:609069
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia ORPHA:226307
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia 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 Prepl

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 Prepl.

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

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MGI Allele Allele Type Produced
Preplem2(IMPC)H Exon Deletion Mice
Preplem1(IMPC)H Exon Deletion Mice
Prepltm80777(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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