- 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
STOCK MafOfl/H
Status | Available to order |
EMMA ID | EM:00423 |
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/+, heterozygous (C3H/HeH x 101/H)F1 |
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
MGI phenotypes (allele matching)
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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