Phenotypes associated with this allele

• Allele Symbol: Maf^Ofl
• Allele Name: opaque flecks in lens
• Allele ID: MGI:2654153
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Maf^Ofl/Maf^Ofl	either: 102/ElH or C3H/HeH	MGI:2654213
ht2	Maf^Ofl/Maf^+	either: 102/ElH or C3H/HeH	MGI:2654216

Genotype
MGI:2654213

hm1

• Allelic Composition: Maf^Ofl/Maf^Ofl
• Genetic Background: either: 102/ElH or C3H/HeH

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:82475 )

• the majority of mice born fail to feed and die or disappear within 24 hours

• some mice survive to various ages

postnatal lethality, complete penetrance ( J:82475 )

• small animals die at various ages within a few weeks of birth

behavior/neurological

tremors ( J:82475 )

• mice surviving to at least 2 weeks of age possessed a tremor

growth/size/body

decreased body size ( J:82475 )

• mice that feed and survive to at least 2 weeks of age, are small

renal/urinary system

increased urine glucose level ( J:82475 )

• animals test positive for urine glucose from about 4 weeks of age

• urine glucose levels increase with age

• blood glucose and insulin levels are normal

abnormal kidney morphology ( J:82475 )

• kidneys abnormalities vary in severity, but appeared grossly abnormal, pale in color and with lumpy surface

tubular nephritis ( J:82475 )

• tubular nephritis is seen in mutants that survive beyond one month

dilated renal tubule ( J:82475 )

vision/eye

small pupil ( J:82475 )

abnormal lens induction ( J:82475 )

• lenses remain undifferentiated even in mice surviving beyond 2 weeks of age

microphthalmia ( J:82475 )

homeostasis/metabolism

increased urine glucose level ( J:82475 )

• animals test positive for urine glucose from about 4 weeks of age

• urine glucose levels increase with age

• blood glucose and insulin levels are normal

immune system

tubular nephritis ( J:82475 )

• tubular nephritis is seen in mutants that survive beyond one month

Genotype
MGI:2654216

ht2

• Allelic Composition: Maf^Ofl/Maf⁺
• Genetic Background: either: 102/ElH or C3H/HeH

vision/eye

abnormal pupillary reflex ( J:82475 )

• ona 102/ElH background, some pupils fail to dilate fully after atropine, suggesting abnormal development of the anterior segment

cataract ( J:82475 )

• described as pulverulent (powdery)

• Background Sensitivity: complete penetrance observed on a C3H/HeH background

• Background Sensitivity: incomplete penetrance and expressivity observed on a 102/ElH background

behavior/neurological

abnormal pupillary reflex ( J:82475 )

• ona 102/ElH background, some pupils fail to dilate fully after atropine, suggesting abnormal development of the anterior segment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract 21 multiple types		DOID:0110256	OMIM:610202	J:82475