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Gene: Sars1 MGI:102809

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Gene Summary

Name:
seryl-tRNA synthetase 1
Synonyms:
Strs,  Sars

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
preweaning lethality, complete penetrance Sarstm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased grip strength Sarstm1.1(KOMP)Vlcg HET Early adult 6.38×10-05
embryonic lethality prior to organogenesis Sarstm1.1(KOMP)Vlcg HOM   E9.5 0.00
abnormal iris pigmentation Sarstm1.1(KOMP)Vlcg HET   Early adult 6.01×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Adult LacZ

LacZ Images Section

40 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

9 Images

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Human diseases caused by Sars1 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 Sars1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Recessive Primary Microcephaly
ORPHA:2512
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
OMIM:617709

The table below shows human diseases predicted to be associated to Sars1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Tietz Albinism-Deafness Syndrome
Blue irides, Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis OMIM:103500
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... ORPHA:69736
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigm... OMIM:619165
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation ORPHA:99000
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:277580
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... ORPHA:998
Waardenburg Syndrome, Type 2A
Premature graying of hair, Hypoplastic iris stroma, Albinism, Numerous pigmented freckles, White ... OMIM:193510
Oculocutaneous Albinism Type 1
Blue irides, Iris hypopigmentation, Generalized hypopigmentation, Iris transillumination defect, ... ORPHA:352731
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... ORPHA:79433
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Albinism, Oculocutaneous, Type Ii
Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... OMIM:203200
X-Linked Recessive Ocular Albinism
Freckling, Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Giant melanosomes in me... ORPHA:54
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Griscelli Syndrome Type 1
Premature graying of hair, Partial albinism, Iris hypopigmentation, White hair ORPHA:79476
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... ORPHA:895
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Albinism, White hair, Abnormality of retinal pigmentation, Hypopigmentatio... ORPHA:79435
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation ORPHA:67048
Piebald Trait
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... OMIM:172800
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Hypopigmented skin p... ORPHA:2885
Oculocutaneous Albinism Type 2
Blue irides, Freckling, Iris hypopigmentation, Iris transillumination defect, White eyebrow, Whit... ORPHA:79432
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Astigmatism, Hypo... ORPHA:999
Woolly Hair Nevus
Persistent pupillary membrane, Patchy hypopigmentation of hair, Heterochromia iridis ORPHA:79414
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia OMIM:275400
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Phenylketonuria
Blue irides, Cataract, Fair hair, Generalized hypopigmentation OMIM:261600
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... OMIM:601631
Waardenburg Syndrome, Type 2E
Blue irides, Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Cafe-a... OMIM:611584
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Freckling, Iris hypopigmentation, Iris coloboma, Hypopigmented skin patches, Multiple cafe-au-lai... ORPHA:3214
Waardenburg Syndrome, Type 3
Blue irides, Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forel... OMIM:148820
Congenital Microcoria
Iris hypopigmentation, Megalocornea, Astigmatism, Hypoplastic iris stroma, Corneal stromal edema,... ORPHA:566
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:411515
Oculocutaneous Albinism
Iris hypopigmentation, Iris coloboma, Generalized hypopigmentation, Generalized hypopigmentation ... ORPHA:55
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormality of retinal pigmentation ORPHA:1390
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Fair hair, Iris transillumination defect, Melanocytic nevus OMIM:619172
Oculocutaneous Albinism Type 1B
Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Oculocutaneous Albinism Type 1A
Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Hypopigmentation of hai... ORPHA:79431
Albinism, Oculocutaneous, Type Ia
Blue irides, Astigmatism, Albinism, White hair, Hypopigmentation of hair, Ocular albinism, Absent... OMIM:203100
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613266
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79477
Hermansky-Pudlak Syndrome 8
Blue irides, Generalized hypopigmentation, Astigmatism, Albinism, Ocular albinism, Silver-gray ha... OMIM:614077
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Riboflavin Transporter Deficiency
Iris hypopigmentation ORPHA:97229
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Iris coloboma, Limbal dermoid, Microcornea ORPHA:1791
Piebaldism
Piebaldism, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, White eyebrow,... ORPHA:2884
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Free Sialic Acid Storage Disease
Iris hypopigmentation, Abnormality of skin pigmentation ORPHA:834
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Cataract, Iris hypopigmentation ORPHA:85194
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Ocular albinism, Albinism OMIM:614074
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Iris transillumination defect, Microcornea, Generalized hypopigmentation OMIM:617306
Juvenile Xanthogranuloma
Multiple cafe-au-lait spots, Uveitis, Asymmetry of iris pigmentation, Iritis ORPHA:158000
Edinburgh Malformation Syndrome
Brushfield spots ORPHA:1895
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Iris hypopigmentation, Generalized hypopigmentation, White hair, Ocular albinism ORPHA:2720
Tonne-Kalscheuer Syndrome
Blue irides OMIM:300978
Griscelli Syndrome
Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, White hair, Silver-... ORPHA:381
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Late-Onset Retinal Degeneration
Iris transillumination defect, Abnormal anterior eye segment morphology, Abnormal suspensory liga... ORPHA:67042
Albinism, Ocular, Type I
Ocular albinism, Giant melanosomes in melanocytes OMIM:300500
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Premature graying of hair, White hair, White eyelashes, Hypopigmentat... ORPHA:894
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Blue irides, Cafe-au-lait spot ORPHA:3041
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98795
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation OMIM:132900
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Waardenburg Syndrome, Type 1
Blue irides, Premature graying of hair, Hypoplastic iris stroma, White eyelashes, Partial albinis... OMIM:193500
Deafness-Hypogonadism Syndrome
Heterochromia iridis ORPHA:90646
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:411511
Zellweger Syndrome
Cataract, Brushfield spots, Corneal opacity, Posterior embryotoxon, Abnormal chorioretinal morpho... ORPHA:912
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Pigmentary retinopathy, Brushfield spots, Opacification of the corneal stroma OMIM:214110
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypopigmented skin patches ORPHA:1784
Noonan Syndrome 13
Blue irides, Multiple lentigines, Cafe-au-lait spot OMIM:619087
Facial Spasm
Anisocoria OMIM:134300
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Iris hypopigmentation, Choroideremia, Hypopigmentation of hair, Ocular albinism, Cornea... ORPHA:2719
Wyburn-Mason Syndrome
Iris hypopigmentation ORPHA:53719
Proteus-Like Syndrome
Cataract, Irregular hyperpigmentation, Abnormal pupil morphology, Limbal dermoid, Heterochromia i... ORPHA:2969
Angelman Syndrome
Blue irides, Hypopigmentation of the skin, Fair hair OMIM:105830
Hermansky-Pudlak Syndrome
Cataract, Iris hypopigmentation, Astigmatism, Hypopigmentation of the skin, Hypopigmentation of h... ORPHA:79430
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98794
8Q21.11 Microdeletion Syndrome
Cataract, Iris hypopigmentation, Sclerocornea, Corneal opacity ORPHA:284160
Attenuated Chédiak-Higashi Syndrome
Ocular albinism, Generalized hypopigmentation ORPHA:352723
Chediak-Higashi Syndrome
Iris hypopigmentation, Giant melanosomes in melanocytes, Hypopigmentation of the skin, Hypopigmen... OMIM:214500
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, Hypopigmentation of ... ORPHA:3440
Angelman Syndrome
Iris hypopigmentation, Astigmatism, Hypopigmentation of the skin, Keratoconus, Fair hair ORPHA:72
Noonan Syndrome 4
Blue irides OMIM:610733
Sturge-Weber Syndrome
Iris coloboma, Corneal dystrophy, Heterochromia iridis, Abnormal choroid morphology, Conjunctival... ORPHA:3205
Nail-Patella Syndrome
Lester's sign, Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma ORPHA:2614
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Pigmentary retinopathy, Brushfield spots, Opacification of the corneal stroma OMIM:214100
Duane Retraction Syndrome
Central heterochromia, Irregular hyperpigmentation, Iris coloboma, Hypopigmented skin patches, Hy... ORPHA:233
Hermansky-Pudlak Syndrome 4
Ocular albinism, Albinism OMIM:614073
Familial Dysautonomia
Corneal erosion, Abnormal pupil morphology, Corneal opacity, Heterochromia iridis ORPHA:1764
Koolen-De Vries Syndrome
Cataract, Iris hypopigmentation, Fair hair OMIM:610443
Hermansky-Pudlak Syndrome 7
Ocular albinism, Albinism OMIM:614076
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Hyp... ORPHA:177907
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma OMIM:614866
Hermansky-Pudlak Syndrome 1
Freckling, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentatio... OMIM:203300
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Generalized hypopi... OMIM:176270
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Melanocytic nevus OMIM:101800
Nail-Patella Syndrome
Cataract, Lester's sign, Microphakia, Keratoconus, Microcornea, Antecubital pterygium OMIM:161200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177901
Baraitser-Winter Cerebrofrontofacial Syndrome
Microcornea, Iris coloboma, Heterochromia iridis ORPHA:2995
Chédiak-Higashi Syndrome
Iris hypopigmentation, Spotty hyperpigmentation, Large clumps of pigment irregularly distributed ... ORPHA:167
Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:398073
Knobloch Syndrome 1
Cortical cataract, Band keratopathy, Persistent pupillary membrane, Lens subluxation, Development... OMIM:267750
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism OMIM:614075
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, White eyelashes, White eyebrow, White forelock, Heterochromia iridis OMIM:609136
Neurofibromatosis Type 1
Cataract, Freckling, Hypopigmented skin patches, Abnormality of retinal pigmentation, Multiple ca... ORPHA:636
Retinoblastoma
Uveitis, Abnormality of retinal pigmentation, Hypopyon, Heterochromia iridis, Leukocoria ORPHA:790
Neuroocular Syndrome
Blue irides, Cataract, Lens coloboma, Brushfield spots, Iris coloboma, Stellate iris, Microcornea... OMIM:619539
Phace Syndrome
Cataract, Lens coloboma, Iris coloboma, Sclerocornea, Heterochromia iridis ORPHA:42775
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:163746
Hermansky-Pudlak Syndrome 10
Ocular albinism, Albinism OMIM:617050
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism ORPHA:1352
Trisomy 8P
Astigmatism, Heterochromia iridis ORPHA:264450
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Blue irides, Red hair, Fair hair ORPHA:280651
Hermansky-Pudlak Syndrome 2
Generalized hypopigmentation, Aberrant melanosome maturation, Albinism, Ocular albinism, Fair hair OMIM:608233
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Blue irides, Fair hair, Generalized hypopigmentation OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Blue irides, Fair hair, Generalized hypopigmentation OMIM:129900
Down Syndrome
Brushfield spots OMIM:190685
Williams Syndrome
Cataract, Blue irides, Flat cornea, Megalocornea, Corneal opacity, Aplasia/Hypoplasia of the iris... ORPHA:904
Vici Syndrome
Cataract, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Ocular albinism, Deve... OMIM:242840
Proteus Syndrome
Cataract, Irregular hyperpigmentation, Central heterochromia, Buphthalmos, Abnormality of retinal... ORPHA:744
Williams-Beuren Syndrome
Blue irides, Premature graying of hair OMIM:194050
1P36 Deletion Syndrome
Cataract, Ocular albinism ORPHA:1606
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
OMIM:617709
Autosomal Recessive Primary Microcephaly
ORPHA:2512

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 Sars1

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 Sars1.

No publications found that use IMPC mice or data for Sars1.

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
Sars1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Sars1tm405(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sars1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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