Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
structural maintenance of chromosomes 1A
Synonyms:
Smc1l1,  SB1.8,  SMCB,  Smc1,  Smc1alpha,  5830426I24Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Smc1a 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 Smc1a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Semilobar Holoprosencephaly
ORPHA:220386
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
OMIM:301044
Cornelia De Lange Syndrome
ORPHA:199
Cornelia De Lange Syndrome 2
OMIM:300590
Atypical Rett Syndrome
ORPHA:3095

The table below shows human diseases predicted to be associated to Smc1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Immunodeficiency 54
Chromosome breakage OMIM:609981
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
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
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
N Syndrome
Abnormality of chromosome stability OMIM:310465
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
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
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... OMIM:600901
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... OMIM:227650
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Pate... OMIM:227646
Fanconi Anemia, Complementation Group F
Patent ductus arteriosus, Chromosomal breakage induced by crosslinking agents OMIM:603467
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... OMIM:227645
Bone Marrow Failure Syndrome 3
Chromosome breakage OMIM:617052
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability OMIM:210900
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents OMIM:613951
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Patent ductus arteriosus OMIM:300514
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability ORPHA:175
Fanconi Anemia
Abnormality of chromosome stability, Patent ductus arteriosus ORPHA:84
Nijmegen Breakage Syndrome
Abnormality of chromosome stability ORPHA:647
Cornelia De Lange Syndrome
ORPHA:199
Semilobar Holoprosencephaly
ORPHA:220386
Atypical Rett Syndrome
ORPHA:3095
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
OMIM:301044
Cornelia De Lange Syndrome 2
OMIM:300590

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 Smc1a

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 Smc1a.

No publications found that use IMPC mice or data for Smc1a.

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
Smc1atm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Smc1atm374854(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Smc1atm40657(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Smc1aem1(IMPC)Bay Deletion Mice
Smc1atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter