- microphthalmia / IMPC
- abnormal spleen morphology / IMPC
- abnormal liver morphology / IMPC
- enlarged spleen / IMPC
- lymphoid hyperplasia / IMPC
- increased grip strength / IMPC
- preweaning lethality, complete penetrance / IMPC
- abnormal blood vessel morphology / IMPC
- abnormal placenta morphology / IMPC
- enlarged kidney / IMPC
- decreased prepulse inhibition / IMPC
- enlarged ovary / IMPC
- abnormal kidney morphology / IMPC
- hyperplasia / IMPC
- edema / IMPC
- abnormal liver size / IMPC
- abnormal ovary morphology / IMPC
- urinary bladder obstruction / IMPC
- increased freezing behavior / IMPC
- abnormal placenta vasculature / IMPC
- cataract / IMPC
- enlarged heart / IMPC
- small kidney / IMPC
- abnormal heart morphology / IMPC
- abnormal vitreous body morphology / IMPC
- embryonic growth retardation / IMPC
- increased circulating bilirubin level / IMPC
- small spleen / IMPC
- small liver / IMPC
STOCK MafOfl/H
Status | Available to order |
EMMA ID | EM:00423 |
Citation information | RRID:IMSR_EM:00423 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
International strain name | STOCK MafOfl/H |
Alternative name | OFL |
Strain type | Induced Mutant Strains : Radiation-induced |
Allele/Transgene symbol | MafOfl |
Gene/Transgene symbol | Maf |
Information from provider
Provider | Mary Lyon |
Provider affiliation | MRC Mammalian Genetics Unit |
Phenotypic information | Mice heterozygous for this mutation have opaque flecks in the lens of their eyes. Mice homozygous for this mutation have very small eyes, and most die at birth through a failure to feed. However, the survivors are small, trembly and develop nephritis. |
References |
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Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Animals used for archiving | heterozygous 102/H-MafOfl/+ males, heterozygous (C3H/HeH x 101/H)F1 females |
Stage of embryos | 8-cell |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Cataract-microcornea syndrome / Orphanet_1377
- Cerulean cataract / Orphanet_98989
- Pulverulent cataract / Orphanet_98984
- Aymé-Gripp syndrome / Orphanet_1272
IMPC phenotypes (gene matching)
MGI phenotypes (allele matching)
- cataract / MGI
- abnormal pupillary reflex / MGI
- tremors / MGI
- decreased body size / MGI
- abnormal lens induction / MGI
- microphthalmia / MGI
- small pupils / MGI
- increased urine glucose level / MGI
- abnormal kidney morphology / MGI
- tubular nephritis / MGI
- dilated renal tubules / MGI
- postnatal lethality, complete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
MGI phenotypes (gene matching)
- shortened head / MGI
- tremors / MGI
- weakness / MGI
- decreased body size / MGI
- abnormal lens induction / MGI
- abnormal lens vesicle development / MGI
- microphthalmia / MGI
- abnormal lens morphology / MGI
- cataract / MGI
- small lens / MGI
- small pupils / MGI
- abnormal eating behavior / MGI
- increased urine glucose level / MGI
- abnormal kidney morphology / MGI
- abnormal pupillary reflex / MGI
- tubular nephritis / MGI
- dilated renal tubules / MGI
- abnormal lens fiber morphology / MGI
- abnormal corneal endothelium morphology / MGI
- vision/eye phenotype / MGI
- abnormal lens development / MGI
- decreased interleukin-4 secretion / MGI
- nuclear cataracts / MGI
- postnatal lethality, complete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- increased cornea thickness / MGI
Literature references
- A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding.;Lyon Mary F, Jamieson Robyn V, Perveen Rahat, Glenister Peter H, Griffiths Robert, Boyd Yvonne, Glimcher Laurie H, Favor Jack, Munier Francis L, Black Graeme C M, ;2003;Human molecular genetics;12;585-94; 12620964
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