Phenotypes associated with this allele

• Allele Symbol: Kat2a^tm1Roth
• Allele Name: targeted mutation 1, Sharon Y Roth
• Allele ID: MGI:2386279
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kat2a^tm1Roth/Kat2a^tm1Roth	involves: 129S7/SvEvBrd * C57BL/6J	MGI:2672028
ht2	Kat2a^tm1Roth/Kat2a^+	involves: 129/Sv * 129S7/SvEvBrd	MGI:3801411
ht3	Kat2a^tm1Roth/Kat2a^tm3Roth	129-Kat2a^tm1Roth/Kat2a^tm3Roth	MGI:3801324
ht4	Kat2a^tm1Roth/Kat2a^tm3Roth	involves: 129 * 129S7/SvEvBrd	MGI:3801410
ht5	Kat2a^tm1Roth/Kat2a^tm3Roth	involves: 129 * 129S7/SvEvBrd * C57BL/6	MGI:3801322
ht6	Kat2a^tm1Roth/Kat2a^tm3.2Roth	involves: 129/Sv * 129S7/SvEvBrd	MGI:3801319
cx7	Kat2a^tm1Roth/Kat2a^tm1Roth Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6J	MGI:3712154
cx8	Kat2a^tm1Roth/Kat2a^tm1Roth Kat2b^tm1Roth/Kat2b^tm1Roth	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3801420

Genotype
MGI:2672028

hm1

• Allelic Composition: Kat2a^tm1Roth/Kat2a^tm1Roth
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

mortality/aging

embryonic lethality, complete penetrance ( J:65002 )

• mice die by E10.5

embryo

abnormal mesoderm development ( J:65002 )

• despite normal development of extra-embryonic and cardiac mesoderm, dorsal mesoderm develops abnormally due to an increased in apoptosis

embryonic growth retardation ( J:65002 )

• at E8.5

abnormal chordamesoderm morphology ( J:65002 )

• chordamesoderm develops abnormally

abnormal paraxial mesoderm morphology ( J:65002 )

abnormal head mesenchyme morphology ( J:65002 )

• head mesenchyme develops abnormally

abnormal neural tube morphology ( J:65002 )

• mice rarely form a neural tube

absent notochord ( J:65002 )

• mice rarely form a notochord

absent somites ( J:65002 )

abnormal extraembryonic coelom morphology ( J:65002 )

• ectopic structures form in the exocoelomic cavity projecting from the anterior end

nervous system

abnormal neural tube morphology ( J:65002 )

• mice rarely form a neural tube

growth/size/body

embryonic growth retardation ( J:65002 )

• at E8.5

abnormal head mesenchyme morphology ( J:65002 )

• head mesenchyme develops abnormally

Genotype
MGI:3801411

ht2

• Allelic Composition: Kat2a^tm1Roth/Kat2a⁺
• Genetic Background: involves: 129/Sv * 129S7/SvEvBrd

skeleton

decreased lumbar vertebrae number ( J:137385 )

• in 2 mice

Genotype
MGI:3801324

ht3

• Allelic Composition: Kat2a^tm1Roth/Kat2a^tm3Roth
• Genetic Background: 129-Kat2a^tm1Roth/Kat2a^tm3Roth

nervous system

exencephaly ( J:132940 )

• Background Sensitivity: at E18.5 and on a pure 129 background, 100% of mice exhibit exencephaly compared to 19% on a predominantly C57BL/6 mixed background

Genotype
MGI:3801410

ht4

• Allelic Composition: Kat2a^tm1Roth/Kat2a^tm3Roth
• Genetic Background: involves: 129 * 129S7/SvEvBrd

skeleton

abnormal sternebra number ( J:137385 )

• all mice exhibit an extra sternebra between the fourth sternebra and the xiphoid process and some mice exhibit fewer sternebra in the sternum

small xiphoid process ( J:137385 )

• in all mice

increased rib number ( J:137385 )

rib fusion ( J:137385 )

• in some mice

thoracic vertebral transformation ( J:137385 )

• 90% of mice exhibit a T12 to T10 transformation while the remaining 10% exhibit a T13 to T10 transformation

lumbar vertebral transformation ( J:137385 )

• at E18.5 and P0, all mice exhibit a transformation of specific lumbar segments to anterior thoracic segments

• 85% of mice exhibit anapophysis on L3 indicating a conversion of L3 to L2 as well as exhibiting an L1 to T14 transformation

• 15% of mice exhibit anapophysis on L4

Genotype
MGI:3801322

ht5

• Allelic Composition: Kat2a^tm1Roth/Kat2a^tm3Roth
• Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:132940 )

• fewer than expected mice survive until weaning (1% compared to the expected 25%)

embryo

decreased embryo size ( J:132940 )

• at E10.5

abnormal neural tube closure ( J:132940 )

• Background Sensitivity: on predominantly C57BL/6 mixed background 19% of mice exhibit neural tube closure defect at E18.5

open neural tube ( J:132940 )

• at E9.5, some mice exhibit open neural tubes

• at E18.5, 42% of mice exhibit open neural tubes

nervous system

nervous system phenotype ( J:132940 )

N • despite exencephaly, mice exhibit normal neural cell death and proliferation and normal neural crest formation and migration

abnormal neural tube closure ( J:132940 )

• Background Sensitivity: on predominantly C57BL/6 mixed background 19% of mice exhibit neural tube closure defect at E18.5

open neural tube ( J:132940 )

• at E9.5, some mice exhibit open neural tubes

• at E18.5, 42% of mice exhibit open neural tubes

exencephaly ( J:132940 )

• at E9.5 to E10.5, 40% to 50% of mice exhibit open anterior neural tubes with no gender bias

growth/size/body

decreased embryo size ( J:132940 )

• at E10.5

decreased body size ( J:132940 )

• in the one mouse that survives past weaning

decreased fetal size ( J:132940 )

• by 20% at E18.5

respiratory system

respiratory system phenotype ( J:132940 )

N • despite abnormal breathing, mice exhibit normal lung morphology

abnormal breathing pattern ( J:132940 )

• mice removed from mothers at E18.5 die within minutes with difficulty breathing

behavior/neurological

hunched posture ( J:132940 )

• in the one mouse that survives past weaning

vision/eye

blepharoptosis ( J:132940 )

• in the one mouse that survives past weaning

Genotype
MGI:3801319

ht6

• Allelic Composition: Kat2a^tm1Roth/Kat2a^tm3.2Roth
• Genetic Background: involves: 129/Sv * 129S7/SvEvBrd

normal phenotype

no abnormal phenotype detected ( J:132940 )

• mice exhibit no obvious defects

Genotype
MGI:3712154

cx7

• Allelic Composition: Kat2a^tm1Roth/Kat2a^tm1Roth; Trp53^tm1Tyj/Trp53^tm1Tyj
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6J

mortality/aging

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

• double mutants show embryonic lethality similar to Gcnl2-null embryos; numbers of homozygous embryos are normal at E9.5 and 10.5, but reduced relative to expected at E12.5

embryo

embryo phenotype ( J:121357 )

N • embryos have distinct anterior-posterior axis, head folds, and show somite development in contrast to Gcn5l2-null mice; embryos initiate somite and notochord formation, as well as initiation of anterior and midbrain development along the same time frame as in controls

decreased embryonic tissue cell apoptosis ( J:121357 )

• double homozygous embryos show reduced apoptosis relative to Gcn5l2-null single mutants at E8.5-9.0

abnormal embryo turning ( J:121357 )

• double mutants are slow to turn

embryonic growth retardation ( J:121357 )

• embryo development appears delayed at times later than E8.5

decreased embryo size ( J:121357 )

• embryos are smaller than littermates at all time points examined

abnormal somite development ( J:121357 )

• at E8.5, mutant embryos have 1-5 somites compared to littermates which have 7-13 somites

growth/size/body

embryonic growth retardation ( J:121357 )

• embryo development appears delayed at times later than E8.5

decreased embryo size ( J:121357 )

• embryos are smaller than littermates at all time points examined

cellular

decreased embryonic tissue cell apoptosis ( J:121357 )

• double homozygous embryos show reduced apoptosis relative to Gcn5l2-null single mutants at E8.5-9.0

Genotype
MGI:3801420

cx8

• Allelic Composition: Kat2a^tm1Roth/Kat2a^tm1Roth; Kat2b^tm1Roth/Kat2b^tm1Roth
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:65002 )

• mice die approximately at E7.5

embryo

embryonic growth retardation ( J:65002 )

abnormal embryonic tissue morphology ( J:65002 )

• at E6.5, mice are arrested at the egg cylinder stage with severely disorganized embryonic ectoderm and visceral endoderm

abnormal visceral yolk sac morphology ( J:65002 )

• some yolk sacs are filled with blood

growth/size/body

embryonic growth retardation ( J:65002 )