Phenotypes associated with this allele

• Allele Symbol: Fzd5^tm1Mmt
• Allele Name: targeted mutation 1, Maketo M Taketo
• Allele ID: MGI:2177951
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fzd5^tm1Mmt/Fzd5^tm1Mmt	involves: 129X1/SvJ	MGI:6379406
hm2	Fzd5^tm1Mmt/Fzd5^tm1Mmt	involves: 129X1/SvJ * C57BL/6	MGI:2177956
cn3	Fzd5^tm1Mmt/Fzd5^tm1Cle Tg(Six3-cre)69Frty/0	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * DBA/2	MGI:6379400

Genotype
MGI:6379406

hm1

• Allelic Composition: Fzd5^tm1Mmt/Fzd5^tm1Mmt
• Genetic Background: involves: 129X1/SvJ

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

vision/eye

abnormal lens development ( J:136314 )

• fails to proceed beyond a rudimentary lens pit

abnormal optic cup morphology ( J:136314 )

• severe

abnormal optic vesicle formation ( J:136314 )

• fails to invaginate and forms a vesicle-like structure with a partially thickened outer portion

abnormal eye physiology ( J:136314 )

• decreased retinal proliferation by the optic cup stage

increased retina apoptosis ( J:136314 )

• in the presumptive retina of the optic vesicle at E10.25 and E10.5

cellular

increased retina apoptosis ( J:136314 )

• in the presumptive retina of the optic vesicle at E10.25 and E10.5

Genotype
MGI:2177956

hm2

• Allelic Composition: Fzd5^tm1Mmt/Fzd5^tm1Mmt
• Genetic Background: involves: 129X1/SvJ * C57BL/6

mortality/aging

prenatal lethality, complete penetrance ( J:52605 )

• embryos phenotypically normal to E10.25

• from E10.75 to E13.5, progressively fewer homozygous embryos are recoverable and all are morphologically abnormal

• no homozygotes are born

cardiovascular system

abnormal placental labyrinth vasculature morphology ( J:52605 )

• embryonic blood vessels fail to penetrate into the labyrinthine layer

• complete separation of embryonic and maternal circulation

disorganized yolk sac vascular plexus ( J:52605 )

hemorrhage ( J:52605 )

• heart is still beating at E10.75

• some free embryonic erythrocytes in yolk sac cavity are indicative of bleeding

• internal bleeding in the head and heart seen in about 10% of embryos

embryo

abnormal placental labyrinth vasculature morphology ( J:52605 )

• embryonic blood vessels fail to penetrate into the labyrinthine layer

• complete separation of embryonic and maternal circulation

abnormal visceral yolk sac morphology ( J:52605 )

• poorly developed layer of endothelial cells lining the yolk sac

• growth rate of endothelial cells normal to E9.25 but markedly reduced at E10.25

disorganized yolk sac vascular plexus ( J:52605 )

pale yolk sac ( J:52605 )

• little or no blood flow in the yolk sac at E10.75 and an overall anemic appearance

abnormal vitelline vascular remodeling ( J:52605 )

• large vitelline vessels poorly developed

• not remodeled into a well connected network

Genotype
MGI:6379400

cn3

• Allelic Composition: Fzd5^tm1Mmt/Fzd5^tm1Cle; Tg(Six3-cre)69Frty/0
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * DBA/2

vision/eye

vision/eye phenotype ( J:142601 )

N • mice exhibit normal optic fissure closure at E14.5

increased cornea thickness ( J:142601 )

• at E14.5

small lens ( J:142601 )

• variable and not highly significant reduction in diameter

microphthalmia ( J:142601 )

abnormal retina layer morphology ( J:142601 )

• abnormal lamination in some mice especially in the inner retinas and rosette structures

• however, retina distant from the hyperplastic vitreous vasculature is normal

disorganized retina ganglion layer ( J:142601 )

• adjacent to the hyperplastic vitreous vasculature mixed with neuroblast layer

increased total retina thickness ( J:142601 )

• at E14.5

retina detachment ( J:142601 )

• partial in some mice

• complete in some mice

retina fold ( J:142601 )

• retinal folds in some mice

vitreous body deposition ( J:142601 )

• retrolental mass at E12.5 and E17.5 that disrupts neuroblast lamination in the adjacent retinal area

abnormal eye physiology ( J:142601 )

• on going proliferation of hyperplastic vitreous vasculature

abnormal retina apoptosis ( J:142601 )

• increased apoptosis of ganglion cells adjacent to the hyperplastic vitreous vasculature, which fails to undergo apoptosis

cardiovascular system

abnormal vascular regression ( J:142601 )

• due to failure of vascular regression, the retrolental mass develops into pigmented hyperplastic primary vasculature that persists in postnatal stages (P0, P10 and P23) occasionally attached to the lens or the inner surface of the retina

cellular

abnormal vascular regression ( J:142601 )

• due to failure of vascular regression, the retrolental mass develops into pigmented hyperplastic primary vasculature that persists in postnatal stages (P0, P10 and P23) occasionally attached to the lens or the inner surface of the retina

abnormal retina apoptosis ( J:142601 )

• increased apoptosis of ganglion cells adjacent to the hyperplastic vitreous vasculature, which fails to undergo apoptosis