Phenotypes associated with this allele

• Allele Symbol: Maf^tm1Glm
• Allele Name: targeted mutation 1, Laurie H Glimcher
• Allele ID: MGI:2148636
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Maf^tm1Glm/Maf^tm1Glm	involves: 129/Sv * BALB/c	MGI:2176508

Genotype
MGI:2176508

hm1

• Allelic Composition: Maf^tm1Glm/Maf^tm1Glm
• Genetic Background: involves: 129/Sv * BALB/c

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Histological analysis of the lens from Maf^tm1Glm/Maf⁺ and Maf^tm1Glm/Maf^tm1Glm mice

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:54079 )

• intrauterine death of some homozygotes occurs at E17.5-18.5; only 8% of live-born pups are homozygous

perinatal lethality, incomplete penetrance ( J:54079 )

• intrauterine death of some homozygotes occurs at E17.5-18.5; only 8% of live-born pups are homozygous

postnatal lethality, incomplete penetrance ( J:54079 )

• about one-third of homozygotes do not survive past weaning

growth/size/body

decreased body size ( J:54079 )

• from P15 onward, homozygotes appear runted compared to wild-type littermates

vision/eye

vision/eye phenotype ( J:54079 )

N • despite lens defects, cornea is well separated from lens and formation of neural retina is grossly normal

abnormal lens morphology ( J:54079 )

• in 5-week old adults, lens shows substantial degeneration

abnormal lens development ( J:54079 )

• cells of the posterior region of the lens fail to elongate toward the epithelial anterior wall and differentiate into lens fiber cells, resulting in a small and hollow lens cavity

• defect is apparent by E12

microphthalmia ( J:54079 )

• homozygotes display microphthalmia, identifiable from P15 onward

immune system

decreased interleukin-4 secretion ( J:78382 )

• cultured Maf-deficient cells have severe impairment in Il-4 production compared to wild-type cells: Maf-deficient mice injected with anti-CD3 show a defect in Il-4 induction

• Maf-deficient splenocytes treated with exogenous Il-4 produce 70% lower levels of Il-4; purified naive T helper cells produce almost no Il-4 after treatment with exogenous Il-4

• expression of other cytokines is not directly affected in mutants