- decreased bone marrow cell number / MGI
- absent CD8-positive, alpha-beta T cells / MGI
- decreased body size / MGI
- postnatal growth retardation / MGI
- abnormal proerythroblast morphology / MGI
- decreased hematopoietic stem cell number / MGI
- decreased lymphocyte cell number / MGI
- decreased B cell number / MGI
- abnormal DNA repair / MGI
- prenatal lethality, incomplete penetrance / MGI
- decreased fibroblast proliferation / MGI
STOCK Lig4tiny/ApbH
Status | Available to order |
EMMA ID | EM:02183 |
International strain name | STOCK Lig4tiny/ApbH |
Alternative name | Tiny, C57BL/6Apb-Lig4 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Lig4tiny |
Gene/Transgene symbol | Lig4 |
Information from provider
Provider | Chris Goodnow |
Provider affiliation | The Australian National University |
Genetic information | This mutant line is small in size, has no CD8 cells or B cells. This strain was identified during systematically screening of the mouse genome for autoimmune regulators. The strain is similar to human severe combined immunodeficiency (SCID). This strain has a phenotype which is less severe than the published null mutations. |
Phenotypic information | This mutant line is small in size and has no CD8 cells or B cells. |
References |
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Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Omenn syndrome / Orphanet_39041
- LIG4 syndrome / Orphanet_99812
- Dubowitz syndrome / Orphanet_235
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- decreased bone marrow cell number / MGI
- decreased cell proliferation / MGI
- abnormal immune system morphology / MGI
- small spleen / MGI
- abnormal thymus morphology / MGI
- small thymus / MGI
- decreased thymocyte number / MGI
- abnormal immune system cell morphology / MGI
- abnormal lymphocyte cell number / MGI
- absent CD8-positive, alpha-beta T cells / MGI
- abnormal diencephalon morphology / MGI
- decreased body weight / MGI
- decreased body size / MGI
- postnatal growth retardation / MGI
- abnormal immune system physiology / MGI
- arrested B cell differentiation / MGI
- decreased IgG level / MGI
- decreased IgM level / MGI
- decreased IgA level / MGI
- arrested T cell differentiation / MGI
- abnormal T cell activation / MGI
- intestinal inflammation / MGI
- liver inflammation / MGI
- reduced fertility / MGI
- increased cellular sensitivity to gamma-irradiation / MGI
- increased T cell derived lymphoma incidence / MGI
- premature death / MGI
- abnormal B cell differentiation / MGI
- abnormal T cell differentiation / MGI
- abnormal lymphopoiesis / MGI
- abnormal proerythroblast morphology / MGI
- decreased immunoglobulin level / MGI
- abnormal immune system organ morphology / MGI
- increased neuron apoptosis / MGI
- chromosome breakage / MGI
- spontaneous chromosome breakage / MGI
- induced chromosome breakage / MGI
- abnormal striatum morphology / MGI
- decreased fetal size / MGI
- increased cellular sensitivity to ionizing radiation / MGI
- increased anti-double stranded DNA antibody level / MGI
- decreased hematopoietic stem cell number / MGI
- increased anti-chromatin antibody level / MGI
- abnormal regulatory T cell morphology / MGI
- decreased spleen weight / MGI
- decreased thymus weight / MGI
- decreased lymphocyte cell number / MGI
- decreased B cell number / MGI
- decreased double-negative T cell number / MGI
- decreased double-positive T cell number / MGI
- decreased T cell proliferation / MGI
- abnormal brainstem morphology / MGI
- cellular phenotype / MGI
- hematopoietic system phenotype / MGI
- abnormal cell physiology / MGI
- thin cerebral cortex / MGI
- increased medulloblastoma incidence / MGI
- increased T cell apoptosis / MGI
- abnormal DNA repair / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- decreased CD8-positive, alpha-beta T cell number / MGI
- abnormal B cell activation / MGI
- decreased IgG2b level / MGI
- decreased IgG3 level / MGI
- decreased interferon-gamma secretion / MGI
- decreased interleukin-13 secretion / MGI
- abnormal T cell receptor V(D)J recombination / MGI
- abnormal T cell receptor beta chain V(D)J recombination / MGI
- chromosomal instability / MGI
- increased colon adenocarcinoma incidence / MGI
- decreased splenocyte number / MGI
- prenatal lethality, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- decreased fibroblast proliferation / MGI
- increased forebrain apoptosis / MGI
- increased spinal cord apoptosis / MGI
Literature references
- DNA repair is limiting for haematopoietic stem cells during ageing.;Nijnik Anastasia, Woodbine Lisa, Marchetti Caterina, Dawson Sara, Lambe Teresa, Liu Cong, Rodrigues Neil P, Crockford Tanya L, Cabuy Erik, Vindigni Alessandro, Enver Tariq, Bell John I, Slijepcevic Predrag, Goodnow Christopher C, Jeggo Penelope A, Cornall Richard J, ;2007;Nature;447;686-90; 17554302
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