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Gene: Slx1b MGI:1915220

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Gene Summary

Name:
SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae)
Synonyms:
Giyd2,  1110030E23Rik,  2410170E21Rik,  4833422P03Rik

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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
increased circulating alkaline phosphatase level Slx1bem1(IMPC)Ics HET Early adult 2.11×10-05

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.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Human diseases caused by Slx1b 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slx1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
N Syndrome
Abnormality of chromosome stability OMIM:310465
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Immunodeficiency 54
Chromosome breakage OMIM:609981
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Folate-dependent fragile site at Xq28 ORPHA:85327
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents OMIM:613951
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:600901
Bone Marrow Failure Syndrome 3
Chromosome breakage OMIM:617052
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227650
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability OMIM:210900
Fanconi Anemia, Complementation Group F
Patent ductus arteriosus, Chromosomal breakage induced by crosslinking agents OMIM:603467
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227645
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Patent ductus arteriosus, Chromosomal ... OMIM:227646
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Abnormality of chromosome stability OMIM:300514
Trichothiodystrophy
Defective DNA repair after ultraviolet radiation damage ORPHA:33364
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:278800
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Revesz Syndrome
Abnormality of chromosome stability OMIM:268130
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability ORPHA:175
Nijmegen Breakage Syndrome
Abnormality of chromosome stability ORPHA:647
Fanconi Anemia
Patent ductus arteriosus, Abnormality of chromosome stability ORPHA:84

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 Slx1b

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 Slx1b.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts. NPJ genomic medicine (June 2022) Slx1bem1(IMPC)Ics PMC9205872

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MGI Allele Allele Type Produced
Slx1bem1(IMPC)Ics Deletion Mice
Slx1btm236228(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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