Phenotypes associated with this allele

• Allele Symbol: Maf^tm1Gsb
• Allele Name: targeted mutation 1, Gregory S Barsh
• Allele ID: MGI:2148635
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Maf^tm1Gsb/Maf^tm1Gsb	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2172650

Genotype
MGI:2172650

hm1

• Allelic Composition: Maf^tm1Gsb/Maf^tm1Gsb
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:56583 )

• mice die within hours of birth

vision/eye

abnormal cornea endothelium morphology ( J:56583 )

• in older mice, corneas exhibit increased cell proliferation and irregularity at the endothelial surface

increased cornea thickness ( J:56583 )

• in older mice, corneas are thickened

abnormal lens development ( J:56583 )

• by E12.5, fiber cell differentiation and elongation ceases

• early maturation of primary and secondary lens fiber cells and the ability of these cells to remain in G0 is disrupted

• at E15.5, the boundary between proliferating and non-proliferating cells is shifted anteriorly

abnormal lens vesicle development ( J:56583 )

• by E13.5, the lens vesicle is hollow whereas it is filled in wild-type mice

• by E15.5, epithelial cells are confined to the anterior third rather than the anterior half of the lens vesicle

• after E16.5, the lens vesicle is deformed

small lens ( J:56583 )

• at E17.5, lens size is reduced by one half or less of wild-type

craniofacial

shortened head ( J:56583 )

• mice exhibit a fore-shortened head at birth

behavior/neurological

abnormal eating behavior ( J:56583 )

• mice do not eat at birth

weakness ( J:56583 )

• at birth

growth/size/body

shortened head ( J:56583 )

• mice exhibit a fore-shortened head at birth