Gene Summary

Name:
glutaminyl-tRNA synthetase 1
Synonyms:
1200016L19Rik,  Qars,  1110018N24Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Qars1em1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Qars1em1(IMPC)Mbp HET Early adult 0.00
abnormal retina morphology Qars1em1(IMPC)Mbp HET   Early adult 2.06×10-05
abnormal brain morphology Qars1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Qars1em1(IMPC)Mbp HOM   Early adult 0.00
anophthalmia Qars1em1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Qars1em1(IMPC)Mbp HET Early adult 2.57×10-06
abnormal skeletal muscle morphology Qars1em1(IMPC)Mbp HET Early adult 0.00
embryonic lethality prior to organogenesis Qars1em1(IMPC)Mbp HOM   E9.5 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.

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

Gross Morphology Embryo E9.5

Images

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Human diseases caused by Qars1 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 Qars1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
OMIM:615760

The table below shows human diseases predicted to be associated to Qars1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia OMIM:615524
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... OMIM:312700
Walker-Warburg Syndrome
Retinal detachment, Skeletal muscle atrophy, Anophthalmia, Retinal dystrophy, Chorioretinal dyspl... ORPHA:899
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia, Muscular dystrophy OMIM:614830
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Microphthalmia, Syndromic 5
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Coloboma, Microphthalmia OMIM:610125
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:139471
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Congenital muscular dystrophy, Retinal dysplasia, Coloboma ORPHA:324416
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Trisomy 13
Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia of the iris... ORPHA:3378
Anencephaly 2
Anophthalmia OMIM:619452
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... ORPHA:83461
Solitary Median Maxillary Central Incisor
Microphthalmia, Cyclopia, Anophthalmia, Coloboma OMIM:147250
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Anophthalmia Plus Syndrome
Anophthalmia, Iris coloboma ORPHA:1104
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Iris coloboma ORPHA:77298
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia ORPHA:2470
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Camptodactyly of finger, Hypoplasia of the musculature, Abnormal vitreous humor mor... ORPHA:1101
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system OMIM:257910
Cockayne Syndrome Type 2
Anophthalmia, Flexion contracture, Limb hypertonia ORPHA:90322
Trisomy 1Q
Anophthalmia, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... ORPHA:2526
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Camptodactyly of 2nd-5th fingers OMIM:206920
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... OMIM:609049
Cockayne Syndrome Type 1
Pigmentary retinopathy, Anophthalmia, Optic atrophy, Foot joint contracture ORPHA:90321
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Coloboma OMIM:615877
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Holoprosencephaly
Anophthalmia, Congenital diaphragmatic hernia, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:2162
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microphthalmia OMIM:206900
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Anophthalmia, Bilateral microphthalmos, Congenital diaphragmatic hernia OMIM:601186
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
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Buphthalmos, Retinal nonattachment, Retinal fold, Microp... OMIM:221900
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Co... ORPHA:2556
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Joubert Syndrome 21
Retinopathy, Anophthalmia, Optic atrophy, Megalopapilla OMIM:615636
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Abnormal optic nerve morphology ORPHA:3412
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Iris coloboma ORPHA:2250
Cerebrooculonasal Syndrome
Iris coloboma, Anophthalmia, Optic nerve hypoplasia OMIM:605627
Norrie Disease
Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp... OMIM:310600
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia... ORPHA:141099
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Flexion contracture, M... OMIM:300166
Meckel Syndrome
Anophthalmia, Abnormal chorioretinal morphology, Optic atrophy, Aplasia/Hypoplasia of the iris, M... ORPHA:564
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system ORPHA:2714
Fibular Hemimelia
Anophthalmia ORPHA:93323
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia, Congenital muscular torticollis ORPHA:2538
Charge Syndrome
Anophthalmia, Facial palsy, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:138
Focal Dermal Hypoplasia
Anophthalmia, Diastasis recti, Congenital diaphragmatic hernia, Optic atrophy, Chorioretinal colo... OMIM:305600
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Microphthalmia With Limb Anomalies
Microphthalmia, Camptodactyly of 2nd-5th fingers, Optic atrophy, True anophthalmia ORPHA:1106
Atelis Syndrome 2
Microphthalmia, Remnants of the hyaloid vascular system, Vitreous hemorrhage OMIM:620185
Charge Syndrome
Anophthalmia, Facial palsy, Unilateral microphthalmos, Coloboma, Retinal coloboma, Microphthalmia... OMIM:214800
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Retinal hamartoma, Epiretinal membrane, Wr... ORPHA:637
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia, Retinal dystrophy, Coloboma OMIM:607932
Branchiooculofacial Syndrome
Anophthalmia, Facial palsy, Elbow flexion contracture, Retinal coloboma, Microphthalmia, Iris col... OMIM:113620
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Microphthalmia, Syndromic 1
Anophthalmia, Optic disc coloboma, Ciliary body coloboma, Chorioretinal coloboma, Camptodactyly, ... OMIM:309800
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Abno... ORPHA:649
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... OMIM:157170
Neuroocular Syndrome
Hypoplasia of the fovea, Scapular winging, Remnants of the hyaloid vascular system, Lens coloboma... OMIM:619539
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia, Hypoplasia of facial musculature OMIM:164210
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
OMIM:615760

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 Qars1

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 Qars1.

No publications found that use IMPC mice or data for Qars1.

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
Qars1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Qars1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Qars1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Qars1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Qars1em1(IMPC)Mbp Inter-exon deletion Mice, Tissue

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