Phenotypes associated with this allele

• Allele Symbol: Maf⁺
• Allele Name: wild type
• Allele ID: MGI:2149277
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Maf^em1(IMPC)Mbp/Maf^+	C57BL/6N-Maf^em1(IMPC)Mbp/MbpMmucd	MGI:6408489
ht2	Maf^Ofl/Maf^+	either: 102/ElH or C3H/HeH	MGI:2654216
ht3	Maf^ENU424/Maf^+	involves: 102/El * C3H/El * C57BL/6El	MGI:3712068

Genotype
MGI:6408489

ht1

• Allelic Composition: Maf^em1(IMPC)Mbp/Maf⁺
• Genetic Background: C57BL/6N-Maf^em1(IMPC)Mbp/MbpMmucd

Data Sources

IMPC Data for Maf

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

behavior/neurological

increased freezing behavior ( J:211773 )

♀

IMPC - UCD

increased grip strength ( J:211773 )

♀

IMPC - UCD

cardiovascular system

abnormal heart morphology ( J:211773 )

♂

IMPC - UCD

enlarged heart ( J:211773 )

♂

IMPC - UCD

embryo

abnormal placenta morphology ( J:211773 )

IMPC - UCD

endocrine/exocrine glands

abnormal ovary morphology ( J:211773 )

♀

IMPC - UCD

enlarged ovary ( J:211773 )

♀

IMPC - UCD

growth/size/body

enlarged heart ( J:211773 )

♂

IMPC - UCD

enlarged ovary ( J:211773 )

♀

IMPC - UCD

enlarged kidney ( J:211773 )

♂

IMPC - UCD

enlarged spleen ( J:211773 )

IMPC - UCD

hematopoietic system

abnormal spleen morphology ( J:211773 )

IMPC - UCD

enlarged spleen ( J:211773 )

IMPC - UCD

small spleen ( J:211773 )

♀

IMPC - UCD

homeostasis/metabolism

increased circulating bilirubin level ( J:211773 )

♀

IMPC - UCD

immune system

abnormal spleen morphology ( J:211773 )

IMPC - UCD

enlarged spleen ( J:211773 )

IMPC - UCD

small spleen ( J:211773 )

♀

IMPC - UCD

liver/biliary system

abnormal liver morphology ( J:211773 )

♀

IMPC - UCD

small liver ( J:211773 )

♀

IMPC - UCD

nervous system

decreased prepulse inhibition ( J:211773 )

IMPC - UCD

renal/urinary system

abnormal kidney morphology ( J:211773 )

♂

IMPC - UCD

enlarged kidney ( J:211773 )

♂

IMPC - UCD

small kidney ( J:211773 )

♂

IMPC - UCD

urinary bladder obstruction ( J:211773 )

♂

IMPC - UCD

reproductive system

abnormal ovary morphology ( J:211773 )

♀

IMPC - UCD

enlarged ovary ( J:211773 )

♀

IMPC - UCD

vision/eye

cataract ( J:211773 )

♀

IMPC - UCD

microphthalmia ( J:211773 )

IMPC - UCD

abnormal vitreous body morphology ( J:211773 )

♀

IMPC - UCD

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

Genotype
MGI:3712068

ht3

• Allelic Composition: Maf^ENU424/Maf⁺
• Genetic Background: involves: 102/El * C3H/El * C57BL/6El

vision/eye

nuclear cataract ( J:121758 )

• mice have a granular nuclear opacity on their lenses to a lesser severity than homozygotes