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 brain morphology Qars1em1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Qars1em1(IMPC)Mbp HET Early adult 0.00
embryonic lethality prior to organogenesis Qars1em1(IMPC)Mbp HOM   E9.5 0.00
anophthalmia 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 1.42×10-05
abnormal skeletal muscle morphology Qars1em1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Qars1em1(IMPC)Mbp HET Early adult 9.87×10-07
preweaning lethality, complete penetrance Qars1em1(IMPC)Mbp 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.

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/Coloboma 10
Microphthalmia, Anophthalmia, Chorioretinal coloboma, Optic pit, Iris coloboma OMIM:616428
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma OMIM:611638
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... 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
Posterior lenticonus, Microphthalmia, Retinal dystrophy, Remnants of the hyaloid vascular system,... ORPHA:231736
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Microphthalmia, Anophthalmia OMIM:615524
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Walker-Warburg Syndrome
Optic atrophy, Muscular dystrophy, Microphthalmia, Retinal dysplasia, Retinal dystrophy, Retinal ... ORPHA:899
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy, Microphthalmia, Retinal dysplasia OMIM:614830
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Microphthalmia, Syndromic 5
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Coloboma OMIM:610125
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Retinal dystrophy, Anophthalmia, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opaci... OMIM:305390
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Muscular dystrophy, Coloboma, Microphthalmia, Retinal dysplasia ORPHA:324416
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Trisomy 13
Optic atrophy, Microphthalmia, Anophthalmia, Abnormal retinal vascular morphology, Aplasia/Hypopl... ORPHA:3378
Anencephaly 2
Anophthalmia OMIM:619452
Solitary Median Maxillary Central Incisor
Cyclopia, Microphthalmia, 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
Microphthalmia/Coloboma 12
Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob... OMIM:120200
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Iris coloboma ORPHA:77298
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormal vitreous humor morphology, Aniridia, Anophthalmia, Hypoplasia of the musculature, Abnorm... ORPHA:1101
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Anophthalmia ORPHA:2470
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system OMIM:257910
Cockayne Syndrome Type 2
Flexion contracture, Limb hypertonia, Anophthalmia ORPHA:90322
Trisomy 1Q
Congenital diaphragmatic hernia, Camptodactyly of finger, Anophthalmia ORPHA:261344
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Anophtha... ORPHA:2526
Microphthalmia With Limb Anomalies
Microphthalmia, Camptodactyly of 2nd-5th fingers, Anophthalmia OMIM:206920
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachm... ORPHA:91495
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Retinal... OMIM:609049
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Foot joint contracture, Anophthalmia ORPHA:90321
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Microphthalmia, Anophthalmia OMIM:615877
Holoprosencephaly
Congenital diaphragmatic hernia, Optic atrophy, Cyclopia, Microphthalmia, Anophthalmia, Retinopat... ORPHA:2162
Microphthalmia, Syndromic 3
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Optic nerve aplasia OMIM:206900
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Abnormal vitreous humor morphology, Retinal dysp... ORPHA:2556
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Bilateral microphthalmos, Diaphragmatic eventration, Anophthalmia OMIM:601186
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold, Bup... OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia... OMIM:614643
Congenital Primary Aphakia
Microphthalmia, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of... ORPHA:83461
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Joubert Syndrome 21
Retinopathy, Optic atrophy, Megalopapilla, Anophthalmia OMIM:615636
Vacterl With Hydrocephalus
Microphthalmia, Abnormal optic nerve morphology, Anophthalmia ORPHA:3412
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Iris coloboma ORPHA:2250
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia, Iris coloboma OMIM:605627
Norrie Disease
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Hypoplasia of the iris, Bup... OMIM:310600
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Retinal detachment, Contracture of the proximal interphalangeal joi... OMIM:300166
Proboscis Lateralis
Cyclopia, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Chorioretinal coloboma, Optic dis... ORPHA:141099
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system ORPHA:2714
Meckel Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Anophthalmia, Aplasia/Hypoplasi... ORPHA:564
Fibular Hemimelia
Anophthalmia ORPHA:93323
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Microphthalmia, Anophthalmia ORPHA:2538
Charge Syndrome
Optic atrophy, Microphthalmia, Anophthalmia, Coloboma, Facial palsy, Chorioretinal coloboma, Iris... ORPHA:138
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Optic atrophy, Microphthalmia, Aniridia, Anophthalmia, Diastasis... OMIM:305600
Microphthalmia With Limb Anomalies
Optic atrophy, Microphthalmia, True anophthalmia, Camptodactyly of 2nd-5th fingers ORPHA:1106
Atelis Syndrome 2
Vitreous hemorrhage, Microphthalmia, Remnants of the hyaloid vascular system OMIM:620185
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Charge Syndrome
Microphthalmia, Anophthalmia, Coloboma, Facial palsy, Unilateral microphthalmos, Retinal coloboma... OMIM:214800
Microphthalmia, Syndromic 6
Coloboma, Microphthalmia, Retinal dystrophy, Anophthalmia OMIM:607932
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia, Elbow flexion contracture, Facial palsy, Retinal coloboma, Iris col... OMIM:113620
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Facial palsy, Abnormal optic nerve morphology, Remnants of the hyaloid vascula... ORPHA:637
Fraser Syndrome 1
Bilateral microphthalmos, Anophthalmia OMIM:219000
Microphthalmia, Syndromic 1
Microphthalmia, Ciliary body coloboma, Iris coloboma, Anophthalmia, Camptodactyly, Chorioretinal ... OMIM:309800
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Norrie Disease
Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Abnormal vitreous humor morphol... ORPHA:649
Holoprosencephaly 2
Cyclopia, Microphthalmia, Remnants of the hyaloid vascular system, Chorioretinal coloboma, Iris c... OMIM:157170
Neuroocular Syndrome
Microphthalmia, Scapular winging, Remnants of the hyaloid vascular system, Hypoplasia of the fove... OMIM:619539
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Remnants of the hyaloid vascular system OMIM:603671
Craniofacial Microsomia 1
Microphthalmia, Hypoplasia of facial musculature, Anophthalmia 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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