Phenotypes associated with this allele

• Allele Symbol: Rybp^tm1Nisa
• Allele Name: targeted mutation 1, Nicole Schreiber-Agus
• Allele ID: MGI:3790768
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rybp^tm1Nisa/Rybp^tm1Nisa	involves: 129S1/Sv * 129X1/SvJ * ICR	MGI:3805208
ht2	Rybp^tm1Nisa/Rybp^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3805329
ht3	Rybp^tm1Nisa/Rybp^+	involves: 129S1/Sv * 129X1/SvJ * ICR	MGI:3805209

Genotype
MGI:3805208

hm1

• Allelic Composition: Rybp^tm1Nisa/Rybp^tm1Nisa
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:134591 )

• lethality occurs between E3.5 and E7.5 with abnormalities in embryo development first occurring at E4.5

growth/size/body

embryonic growth retardation ( J:134591 )

• E5.5 embryos are retarded in growth development and patterning

• the number of E5.5 embryonic cells proliferating are dramatically reduced

• E3.5 blastocytes cultured in vitro fail to survive

embryo

embryonic growth retardation ( J:134591 )

• E5.5 embryos are retarded in growth development and patterning

• the number of E5.5 embryonic cells proliferating are dramatically reduced

• E3.5 blastocytes cultured in vitro fail to survive

abnormal embryonic epiblast morphology ( J:134591 )

• E5.5 embryos have a disorganized presumptive epiblast with cellular degeneration

embryonic epiblast cell degeneration ( J:134591 )

• E5.5 embryos have a disorganized presumptive epiblast with cellular degeneration

absent trophoblast giant cells ( J:134591 )

• trophoblast giant cells are completely absent in E6.0 embryos

absent trophectoderm ( J:134591 )

• E3.5 blastocytes cultured in vitro fail to form trophectodermal outgrowths

abnormal visceral endoderm morphology ( J:134591 )

• the presumptive visceral endoderm has extensive vacuolization at E6.0

reproductive system

impaired embryo implantation ( J:134591 )

♀ • mutant embryos begin to implant but are unable to trigger apoptosis in the underlying endometrium

Genotype
MGI:3805329

ht2

• Allelic Composition: Rybp^tm1Nisa/Rybp⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

vision/eye

optic nerve atrophy ( J:134428 )

• the optic nerve is frequently regressed in the retinas of E14.5 embryos

ventral rotation of lens ( J:134428 )

• lenses are ventrally rotated and misplaced within the eyeball in E14.5 embryos with coloboma

coloboma ( J:134428 )

• 32% of E14.5 embryos that are exencephalic also have retinal/optic nerve coloboma

• the colobomas occur both bilaterally and unilaterally and result from incomplete closure of the optic fissure

optic nerve coloboma ( J:134428 )

retina coloboma ( J:134428 )

retina hyperplasia ( J:134428 )

• the neuroretina is thickened in E14.5 embryos with coloboma

nervous system

optic nerve coloboma ( J:134428 )

optic nerve atrophy ( J:134428 )

• the optic nerve is frequently regressed in the retinas of E14.5 embryos

Genotype
MGI:3805209

ht3

• Allelic Composition: Rybp^tm1Nisa/Rybp⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

mortality/aging

neonatal lethality, incomplete penetrance ( J:134591 )

• 15% of mice die at birth from exencephaly

nervous system

delayed neural tube closure ( J:134591 )

• some E10 embryos have neural tubes with openings at the forebrain/midbrain boundary

abnormal forebrain development ( J:134591 )

• forebrain overgrowth in the 15% of mice that have exencephaly

abnormal midbrain development ( J:134591 )

• disorganization and the absence of parts of the mid-brain are noted in the 15% of mice born with exencephaly

exencephaly ( J:134591 )

• 15% of mice are born with exencephaly

• excencephaly results from forebrain overgrowth and ventricular stenosis

embryo

delayed neural tube closure ( J:134591 )

• some E10 embryos have neural tubes with openings at the forebrain/midbrain boundary