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Gene: Qars1 MGI:1915851

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Gene Summary

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

Order Alleles

IMPC Data Collections

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

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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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
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma OMIM:611638
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... OMIM:615113
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Posterior lentic... ORPHA:231736
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Anophthalmia, Microphthalmia OMIM:615524
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Retinal atrophy, Vitreous hemorrhage, Retinal detachment,... OMIM:312700
Walker-Warburg Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Optic atrophy, Skeleta... ORPHA:899
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy, Retinal dysplasia, Microphthalmia OMIM:614830
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Microphthalmia, Syndromic 5
Anophthalmia, Coloboma, Microphthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Iris coloboma, Retinal dystrophy ORPHA:139471
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Muscular dystrophy, Coloboma, Retinal dysplasia, Microphthalmia ORPHA:324416
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Trisomy 13
Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Abnormal retinal vascular morphology... ORPHA:3378
Anencephaly 2
Anophthalmia OMIM:619452
Solitary Median Maxillary Central Incisor
Cyclopia, Coloboma, Anophthalmia, Microphthalmia OMIM:147250
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Anophthalmia Plus Syndrome
Iris coloboma, Anophthalmia ORPHA:1104
Microphthalmia/Coloboma 12
Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Anophthalmia, Microphthalmia ORPHA:77298
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the musculature, Abnormal optic nerve morphology, Camptodactyly of finger, Aniridia... ORPHA:1101
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Anophthalmia, Microphthalmia ORPHA:2470
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Cockayne Syndrome Type 2
Flexion contracture, Limb hypertonia, Anophthalmia ORPHA:90322
Trisomy 1Q
Congenital diaphragmatic hernia, Anophthalmia, Camptodactyly of finger ORPHA:261344
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Abnormality of retinal pigmentation... ORPHA:2526
Microphthalmia With Limb Anomalies
Camptodactyly of 2nd-5th fingers, Anophthalmia, Microphthalmia OMIM:206920
Persistent Hyperplastic Primary Vitreous
Retinal fold, Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macul... ORPHA:91495
Pierson Syndrome
Skeletal muscle atrophy, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia ... OMIM:609049
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Foot joint contracture, Anophthalmia ORPHA:90321
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Anophthalmia, Microphthalmia OMIM:615877
Holoprosencephaly
Optic atrophy, Chorioretinal coloboma, Congenital diaphragmatic hernia, Anophthalmia, Retinopathy... ORPHA:2162
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Coloboma, Microphthalmia, Optic nerve hypoplasia OMIM:206900
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Congenital diaphragmatic hernia, Anophthalmia, Abnormal vitr... ORPHA:2556
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Anophthalmia, Bilateral microphthalmos, Diaphragmatic eventration OMIM:601186
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Retinal nonattachment, Remnants of the hyaloid vascular system, Microphthalmia, Bup... OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy, Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia, ... OMIM:614643
Congenital Primary Aphakia
Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Joubert Syndrome 21
Optic atrophy, Retinopathy, Anophthalmia, Megalopapilla OMIM:615636
Vacterl With Hydrocephalus
Abnormal optic nerve morphology, Anophthalmia, Microphthalmia ORPHA:3412
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Iris coloboma, Anophthalmia, Microphthalmia ORPHA:2250
Cerebrooculonasal Syndrome
Iris coloboma, Anophthalmia, Optic nerve hypoplasia OMIM:605627
Norrie Disease
Retinal fold, Optic atrophy, Hypoplasia of the iris, Retinal detachment, Microphthalmia, Buphthal... OMIM:310600
Microphthalmia, Syndromic 2
Anophthalmia, Contracture of the proximal interphalangeal joint of the 2nd toe, Contracture of th... OMIM:300166
Proboscis Lateralis
Chorioretinal coloboma, Optic disc coloboma, Anophthalmia, Microphthalmia, Cyclopia, Iris colobom... ORPHA:141099
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia ORPHA:2714
Meckel Syndrome
Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Abnormal chorioretin... ORPHA:564
Fibular Hemimelia
Anophthalmia ORPHA:93323
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Anophthalmia, Microphthalmia ORPHA:2538
Charge Syndrome
Optic atrophy, Chorioretinal coloboma, Anophthalmia, Coloboma, Microphthalmia, Facial palsy, Iris... ORPHA:138
Focal Dermal Hypoplasia
Optic atrophy, Chorioretinal coloboma, Aniridia, Diastasis recti, Congenital diaphragmatic hernia... OMIM:305600
Microphthalmia With Limb Anomalies
Optic atrophy, True anophthalmia, Camptodactyly of 2nd-5th fingers, Microphthalmia ORPHA:1106
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Microphthalmia OMIM:620185
Charge Syndrome
Retinal coloboma, Unilateral microphthalmos, Anophthalmia, Coloboma, Microphthalmia, Facial palsy... OMIM:214800
Microphthalmia, Syndromic 6
Coloboma, Anophthalmia, Retinal dystrophy, Microphthalmia OMIM:607932
Branchiooculofacial Syndrome
Retinal coloboma, Elbow flexion contracture, Anophthalmia, Microphthalmia, Facial palsy, Iris col... OMIM:113620
Full Nf2-Related Schwannomatosis
Abnormal optic nerve morphology, Epiretinal membrane, Foot dorsiflexor weakness, Retinal hamartom... ORPHA:637
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Microphthalmia, Syndromic 1
Joint contracture of the hand, Chorioretinal coloboma, Optic disc coloboma, Ciliary body coloboma... OMIM:309800
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Norrie Disease
Optic atrophy, Hypoplasia of the iris, Abnormal vitreous humor morphology, Abnormal retinal vascu... ORPHA:649
Holoprosencephaly 2
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Cyclopia, Iris c... OMIM:157170
Neuroocular Syndrome 1
Hypoplasia of the fovea, Scapular winging, Microphthalmia, Remnants of the hyaloid vascular syste... OMIM:619539
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Anophthalmia, Microphthalmia 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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