- 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)
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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