Phenotypes associated with this allele

• Allele Symbol: Kat2a^tm2Roth
• Allele Name: targeted mutation 2, Sharon Y R Dent
• Allele ID: MGI:3711317
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kat2a^tm2Roth/Kat2a^tm2Roth	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3712155

Genotype
MGI:3712155

hm1

• Allelic Composition: Kat2a^tm2Roth/Kat2a^tm2Roth
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:121357 )

• normal numbers of embryos are observed at E8.5 and 11.5, but are found at reduced frequency at later times of gestation

embryo

embryo phenotype ( J:121357 )

N • at E8.5, 66% of homozygous embryos are similar to controls, and display somite development and head fold formation

increased embryonic tissue cell apoptosis ( J:121357 )

• smaller homozygotes show elevated levels of apoptosis relative to wild-type or heterozygous embryos

• larger homozygous embryos do not show increased levels of apoptosis relative to controls

decreased embryo size ( J:121357 )

• at E8.5, 34% of homozygous embryos are much smaller than littermates

incomplete rostral neuropore closure ( J:121357 )

• at E9.5, neural folds remain open despite extensive posterior development of the embryos

open neural tube ( J:121357 )

• relative to wild-type littermates, the neural tube remains open from hindbrain-cervical boundary rostrally toward the forebrain at E9.5

failure of somite differentiation ( J:121357 )

growth/size/body

decreased embryo size ( J:121357 )

• at E8.5, 34% of homozygous embryos are much smaller than littermates

cellular

increased embryonic tissue cell apoptosis ( J:121357 )

• smaller homozygotes show elevated levels of apoptosis relative to wild-type or heterozygous embryos

• larger homozygous embryos do not show increased levels of apoptosis relative to controls

decreased fibroblast proliferation ( J:121357 )

• cultured mouse embryonic fibroblasts (MEFs) show similar proliferation to wild-type or hetereozygous MEFs initially, but 4-6 days after plating, doubling time of homozygous cells is slower

nervous system

incomplete rostral neuropore closure ( J:121357 )

• at E9.5, neural folds remain open despite extensive posterior development of the embryos

open neural tube ( J:121357 )

• relative to wild-type littermates, the neural tube remains open from hindbrain-cervical boundary rostrally toward the forebrain at E9.5

abnormal telencephalon development ( J:121357 )

• severe morphological changes are seen in mutants

abnormal midbrain morphology ( J:121357 )

• severe morphological changes are seen in mutants

abnormal metencephalon morphology ( J:121357 )

• severe morphological changes are seen in mutants

exencephaly ( J:121357 )

• embryos from E11.5 onward display exencephaly