Phenotypes Associated with This Genotype

Genotype
MGI:7343893

• Allelic Composition: Bcor^tm1.1Vjba/Bcor⁺; Tmem163^{Tg(ACTB-cre)2Mrt}/Tmem163⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6N * FVB/N

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:296645 )

♀ • Background Sensitivity: when backcrossed to a C57BL/6N background

postnatal lethality, incomplete penetrance ( J:296645 )

♀ • fewer than expected found at weaning, with loss occurring between P0.5 and weaning when the recombined allele is inherited paternally

♀ • Background Sensitivity: survival is reduced when backcrossed into the C57BL/6N background to about 5%

embryonic lethality prior to tooth bud stage ( J:296645 )

♀ • vast majority of embryos are dead by E12.5 when the recombined allele is maternally inherited

embryo

decreased embryo size ( J:296645 )

♀ • at E8.5 and E10.5 when the recombined allele is maternally inherited

abnormal placenta morphology ( J:296645 )

♀ • increase in maternal blood near the trophoblast giant cell layer when the allele is maternally inherited

increased trophoblast giant cell number ( J:296645 )

♀ • over-representation of larger than normal placental trophoblast giant cells at E10.5-E11.5 when the recombined allele is maternally inherited

♀ • trophoblast giant cells appear to invade the spongiotrophoblast layer when the recombined allele is maternally inherited

abnormal spongiotrophoblast layer morphology ( J:296645 )

♀ • trophoblast giant cells appear to invade the spongiotrophoblast layer when the recombined allele is maternally inherited

abnormal placenta labyrinth morphology ( J:296645 )

♀ • at E12.5 appear to have more blood relative to controls when the recombined allele is maternally inherited

thin placenta labyrinth ( J:296645 )

♀ • thinner in placental midpoint sections when the recombined allele is maternally inherited

craniofacial

cleft palate ( J:296645 )

♀ • clefting in 32% (7 of 22) of late gestation females

asymmetric snout ( J:296645 )

♀ • occasional

broad snout ( J:296645 )

♀ • occasional

vision/eye

cataract ( J:296645 )

♀ • 55% (23 of 42) of surviving mice have lens opacification

♀ • 8 of 23 with cataracts have bilateral catacts

microphthalmia ( J:296645 )

♀ • average width is reduced by about 0.2 mm compared to controls

♀ • pronounced bilateral asymmetry of globe width

blepharoptosis ( J:296645 )

♀ • eyelids often appear ptotic and/or swollen

skeleton

kyphosis ( J:296645 )

♀ • most obvious in older mice

♀ • no obvious wedging of the vertebral discs

limbs/digits/tail

kinked tail ( J:296645 )

♀ • all survivors have kinked tails

digestive/alimentary system

cleft palate ( J:296645 )

♀ • clefting in 32% (7 of 22) of late gestation females

growth/size/body

cleft palate ( J:296645 )

♀ • clefting in 32% (7 of 22) of late gestation females

asymmetric snout ( J:296645 )

♀ • occasional

broad snout ( J:296645 )

♀ • occasional

decreased embryo size ( J:296645 )

♀ • at E8.5 and E10.5 when the recombined allele is maternally inherited

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
syndromic microphthalmia 2		DOID:0111809	OMIM:300166	J:296645