- 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 |
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
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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