Phenotypes associated with this allele

• Allele Symbol: Frs2^tm1Schl
• Allele Name: targeted mutation 1, Joseph Schlessinger
• Allele ID: MGI:3521833
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Frs2^tm1Schl/Frs2^tm1Schl	involves: 129S2/SvPas * Swiss Webster	MGI:3717722
hm2	Frs2^tm1Schl/Frs2^tm1Schl	involves: 129S/SvEv	MGI:3521910

Genotype
MGI:3717722

hm1

• Allelic Composition: Frs2^tm1Schl/Frs2^tm1Schl
• Genetic Background: involves: 129S2/SvPas * Swiss Webster

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

Variable penetrance of eye defects in Frs2^tm1Schl/Frs2^tm1Schl and small body size in Frs2^tm2Schl/Frs2^tm2Schl mice

mortality/aging

prenatal lethality, complete penetrance ( J:94724 , J:102930 )

• no homozygous liveborn mice were observed among more than 200 progeny of heterozygous crosses (J:94724)

• the proportions of homozygous embryos identified at embryonic days 9.5 and 17.5 were lower than the expected Mendelian ratio (J:94724)

• the proportion of homozygous embryos decreased between embryonic days 9.5 and 17.5, indicating they die over a range of developmental stages (J:94724)

• mice do not survive beyond E18.5 (J:102930)

cardiovascular system

abnormal heart morphology ( J:94724 )

• homozygous embryos exhibit defects in heart development

limbs/digits/tail

abnormal limb morphology ( J:94724 )

• homozygous embryos exhibit defects in limb development

vision/eye

vision/eye phenotype ( J:94724 )

N • evagination of the optic vesicle appears normal at embryonic day 9.5

microphthalmia ( J:94724 )

• approximately 70% of mutant embryos exhibit bilateral microphthalmia of varying severity

• the remaining 30% either are anophthalmic or are microphthalmic on one side and anophthalmic on the other

anophthalmia ( J:94724 )

• the approximately 30% of mutant embryos that are not bilaterally microphthalmic either are anophthalmic or are microphthalmic on one side and anophthalmic on the other

craniofacial

abnormal pharyngeal arch morphology ( J:94724 )

• homozygous embryos exhibit abnormalities in development of the branchial arches

embryo

abnormal pharyngeal arch morphology ( J:94724 )

• homozygous embryos exhibit abnormalities in development of the branchial arches

nervous system

abnormal cerebellum development ( J:102930 )

• the cortex fails to develop properly between E 14.5 and E15.5

• cell proliferation in the subventricular zone is decreased

• fewer Musashi-1+ neural stem/progenitor cells (NSPCs) are detected

• Tbr2+ intermediate progenitor cells are detected

• neural cells cultured from E11.5 brains grow less efficiently than those derived from wild-type mice

• secondary neurospehres cultured from telencephalons grow slower than those from wild-type in the presence of EGF and FGF2

abnormal cerebellar plate morphology ( J:102930 )

• the cortical plate is half the thickness as that in wild-type mice

• the thickness of the cortical plate is about 70% of the upper layer of the cortical plate of wild-type mice and has

decreased brain size ( J:102930 )

• brains are about 10% smaller than wild-type brains

abnormal cerebral cortex morphology ( J:102930 )

• mice have a lower cell density in all regions of the cerebral cortex compared to wild-type mice

thin cerebral cortex ( J:102930 )

abnormal embryonic/fetal subventricular zone morphology ( J:102930 )

• cell proliferation in the subventricular zone is decreased

growth/size/body

microcephaly ( J:102930 )

• E15.5, mice have smaller heads

Genotype
MGI:3521910

hm2

• Allelic Composition: Frs2^tm1Schl/Frs2^tm1Schl
• Genetic Background: involves: 129S/SvEv

mortality/aging

prenatal lethality, complete penetrance ( J:94724 )

• on this strain background, no homozygotes were born, and very few homozygous embryos were observed at advanced developmental stages