Gene Summary

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

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
eyelids fail to open Preplem1(IMPC)H HOM   Early adult 9.43×10-06
abnormal gait Preplem1(IMPC)H HOM Early adult 3.55×10-06
absent optic nerve Preplem1(IMPC)H HOM Early adult 0.00
narrow eye opening Preplem1(IMPC)H HOM   Early adult 1.15×10-05
preweaning lethality, incomplete penetrance Preplem1(IMPC)H HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 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
Failure to thrive, Hypotonia, Growth delay ORPHA:163690
2P21 Microdeletion Syndrome
Failure to thrive, Hypotonia, Growth delay 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
Gait disturbance, Medial flaring of the eyebrow, Ataxia ORPHA:1168
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... OMIM:165550
Phosphoserine Phosphatase Deficiency
Hypertonia, Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
2p15-16.1 microdeletion syndrome
Optic disc hypoplasia, Telecanthus, Downslanted palpebral fissures, Ptosis DECIPHER:70
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Optic disc coloboma, Remnants of t... OMIM:120200
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Entropion OMIM:615113
Joubert Syndrome 40
Optic nerve hypoplasia, Almond-shaped palpebral fissure OMIM:619582
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Hypotonia, Postnatal growth retardation, Intrauterine growth retardation, Generalized hypotonia OMIM:233810
Tatton-Brown-Rahman Syndrome
Narrow palpebral fissure, Optic nerve hypoplasia, Blepharophimosis OMIM:615879
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Ataxia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:614306
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Postnatal growth retardation, Short stature OMIM:616113
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity OMIM:618160
Lissencephaly, X-Linked, 1
Ataxia, Postnatal growth retardation, Muscular hypotonia of the trunk, Spasticity OMIM:300067
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
14Q22Q23 Microdeletion Syndrome
Ptosis, Anophthalmia, Epicanthus, Downslanted palpebral fissures, Optic nerve aplasia ORPHA:264200
Chromosome 4Q21 Deletion Syndrome
Hypotonia, Postnatal growth retardation, Generalized hypotonia OMIM:613509
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Narrow palpebral fissure, Optic nerve hypoplasia, Telecanthus, Downslanted... OMIM:618828
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Intrauterine growth retardation, Short stature, Small for... ORPHA:231144
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrauterine growth retardation, Failure to thrive, Postnatal growth retardation, Spasticity, Gen... OMIM:617093
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Downslanted palpebral fissures OMIM:613638
5Q14.3 Microdeletion Syndrome
Upslanted palpebral fissure, Optic nerve hypoplasia, Thick eyebrow ORPHA:228384
Microcephaly 20, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Gluteal Muscles, Absence Of
Optic nerve hypoplasia OMIM:231970
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Paresthesia OMIM:615361
Cardiofaciocutaneous Syndrome 4
Ptosis, Optic nerve hypoplasia, Absent eyebrow, Telecanthus, Epicanthus OMIM:615280
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Downslanted palpebral fissures, Ptosis OMIM:618736
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Peripheral axonal neuropathy, Upslanted palpebral fissure, Optic nerve hypoplasia,... ORPHA:496790
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Upslanted palpebral fissure, Optic nerve hypoplasia, Optic disc hypoplasia, Epican... ORPHA:401777
Mitochondrial Myopathy With Lactic Acidosis
Dystonia, Growth delay, Dysmetria, Postnatal growth retardation, Spasticity, Generalized hypotoni... OMIM:251950
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia, Telecanthus OMIM:615033
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Eyelid coloboma, Telecanthus, Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Downslanted palpebral fissures, Aplasia/Hypoplasia of the optic nerve ORPHA:137634
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Gait disturbance, Chorioretinal coloboma ORPHA:163937
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Attention deficit hyperactivity disorder, Inability to walk, Optic nerve hypoplasia OMIM:617864
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Postnatal growth retardation, Hypotonia, Obesity, Neonatal hypot... ORPHA:254525
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Narrow palpebral fissure, Upslanted palpebral fissure, Optic nerve hypoplasia, Epicanthus, Long p... ORPHA:363686
Chromosome 2P16.1-P15 Deletion Syndrome
Ptosis, Optic nerve hypoplasia, Telecanthus, Downslanted palpebral fissures, Epicanthus, Short pa... OMIM:612513
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Gait disturbance, Ptosis, Optic nerve hypoplasia, Telecanthus, Downslanted palpebr... ORPHA:261349
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia, Broad-based gait OMIM:300953
Charcot-Marie-Tooth Disease Type 1F
Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Optic nerve hypoplas... ORPHA:101085
Bresek Syndrome
Neonatal death, Aganglionic megacolon, Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Cerebral Visual Impairment
Optic atrophy, Optic disc pallor, Retinopathy of prematurity, Optic nerve hypoplasia, Increased c... ORPHA:447788
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Torticollis, Bilateral ptosis, Optic nerve hypoplasia, Epicanthus, Downslanted palpebra... ORPHA:300570
Gm2 Gangliosidosis, Ab Variant
Dystonia, Short stature, Chorea, Exaggerated startle response, Postnatal growth retardation, Prog... ORPHA:309246
Aniridia 1
Hypoplasia of the fovea, Hypoplasia of the iris, Ptosis, Aniridia, Bilateral ptosis, Optic nerve ... OMIM:106210
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Long eyelashes, Epicanthus, Downslanted palpebral fissures... ORPHA:357001
Squalene Synthase Deficiency
Optic nerve hypoplasia, Epicanthus OMIM:618156
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Proboscis Lateralis
Abnormality of the ocular adnexa, Abnormality of bony orbit of skull, Microphthalmia, Chorioretin... ORPHA:141099
Myasthenic Syndrome, Congenital, 22
Waddling gait, Ptosis OMIM:616224
Phace Association
Optic atrophy, Microphthalmia, Horner syndrome, Optic nerve hypoplasia, Increased retinal vascula... OMIM:606519
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia, Epicanthus, Downslanted palpebral fi... OMIM:300749
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Optic atrophy ORPHA:370959
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia, Telecanthus, Downslanted palpebral fissures OMIM:301056
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Hypotonia, Postnatal growth retardation, Small for gestational age, Large for gestational age ORPHA:254534
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Downslanted palpebral fissures,... ORPHA:93932
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Optic nerve hypoplasia, Upslanted palpebral fissure ORPHA:261250
Microphthalmia, Syndromic 5
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Microphthalmia OMIM:610125
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Dermatochalasis, Lacrimal duct stenosis, Optic nerve hypoplasia, Ataxia, Palpebral edema ORPHA:221139
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Broad eyebrow, Optic nerve hypoplasia, Long eyelashes, Sparse eyebrow... ORPHA:495875
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Ptosis, Upslanted palpebral fissure, Lacrimal duct stenosis, Sparse latera... OMIM:617506
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypotonia, Growth delay ORPHA:163690
Septo-Optic Dysplasia Spectrum
Optic nerve hypoplasia, Septo-optic dysplasia ORPHA:3157
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia, Upper eyelid entropion ORPHA:457284
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Almond-shaped palpebral fissure, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia, Abnorm... ORPHA:508498
Phace Syndrome
Lens coloboma, Abnormality of the orbital region, Microphthalmia, Retinal vascular malformation, ... ORPHA:42775
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormality of the orbital region, Optic disc pallor, Upslanted palpebral fissure, Optic nerve hy... ORPHA:468631
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormality of the optic nerve, Ptosis, Optic nerve hypoplasia, Long palpebral fissure, Inability... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormality of the optic nerve, Ptosis, Optic nerve hypoplasia, Long palpebral fissure, Inability... ORPHA:352665
Microphthalmia, Syndromic 3
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Remnants of the hy... OMIM:614643
Stromme Syndrome
Optic nerve hypoplasia, Retinal vascular tortuosity, Microphthalmia, Stillbirth OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Ret... OMIM:236670
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
2P21 Microdeletion Syndrome
Failure to thrive, Hypotonia, Growth delay ORPHA:163693
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Hypoplasia of eyelid, Optic atrophy OMIM:619321
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia OMIM:609069
Hydranencephaly
Optic nerve hypoplasia, Chorioretinal atrophy, Lethargy ORPHA:2177
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Spondylodysplastic Ehlers-Danlos Syndrome
Optic nerve hypoplasia, Downslanted palpebral fissures, Optic disc coloboma, Ptosis ORPHA:536471
Rhombencephalosynapsis
Ataxia, Aganglionic megacolon, Septo-optic dysplasia ORPHA:59315
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Holoprosencephaly 13, X-Linked
Optic nerve hypoplasia, Septo-optic dysplasia OMIM:301043
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Epicanthus, Downslanted palpebral fissures, Sparse eyebrow... ORPHA:500150
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia, Lethargy ORPHA:226307
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610829
8Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Retinal coloboma, Upslanted palpebral fissure, Optic nerve hypoplasia, Lon... ORPHA:508488
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia ORPHA:95496
Combined Pituitary Hormone Deficiencies, Genetic Forms
Optic nerve hypoplasia, Septo-optic dysplasia 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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