Phenotypes associated with this allele

• Allele Symbol: Kat6a^tm2.2Avo
• Allele Name: targeted mutation 2.2, Anne K Voss
• Allele ID: MGI:4418468
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kat6a^tm2.2Avo/Kat6a^tm2.2Avo	either: (involves: 129 * C57BL/6) or (involves: 129 * BALB/c * FVB/N)	MGI:4418477
hm2	Kat6a^tm2.2Avo/Kat6a^tm2.2Avo	involves: BALB/c * C57BL/6 * FVB	MGI:5447058
ht3	Kat6a^tm2.2Avo/Kat6a^+	involves: BALB/c * C57BL/6 * FVB	MGI:5447059
cx4	Kat6a^tm2.2Avo/Kat6a^+ Tbx1^tm1Bld/Tbx1^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:5447057

Genotype
MGI:4418477

hm1

• Allelic Composition: Kat6a^tm2.2Avo/Kat6a^tm2.2Avo
• Genetic Background: either: (involves: 129 * C57BL/6) or (involves: 129 * BALB/c * FVB/N)

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

cellular

abnormal chromosome morphology ( J:155755 )

• overall association of homeobox (Hox) gene sequences with acetylated lysine 9 on histone 3 (H3K9) is significantly reduced in E10.5 embryos

• hypermethylation in H3K9 at Hox loci in E10.5 embryos

• H4K16 acetylation is increased at Hox loci in E10.5 embryos

• global levels of H3K9 acetylation are not significantly different

• nomal levels in H3K14 acetylation at Hox loci

• H3K9 acetylation returned to normal levels in E10.5 mutant embryos if treated with RA at E9.5

Genotype
MGI:5447058

hm2

• Allelic Composition: Kat6a^tm2.2Avo/Kat6a^tm2.2Avo
• Genetic Background: involves: BALB/c * C57BL/6 * FVB

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:188772 )

• mice die between E14.5 and birth depending on background

hematopoietic system

abnormal hematopoietic stem cell morphology ( J:188772 )

• mice lack transplantable hematopoietic stem cells

Genotype
MGI:5447059

ht3

• Allelic Composition: Kat6a^tm2.2Avo/Kat6a⁺
• Genetic Background: involves: BALB/c * C57BL/6 * FVB

cardiovascular system

retroesophageal right subclavian artery ( J:188772 )

abnormal heart morphology ( J:188772 )

• abnormal remodeled great vessel walls

ventricular septal defect ( J:188772 )

• minor, worsened by retinoic acid treatment

craniofacial

abnormal craniofacial morphology ( J:188772 )

Genotype
MGI:5447057

cx4

• Allelic Composition: Kat6a^tm2.2Avo/Kat6a⁺; Tbx1^tm1Bld/Tbx1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

cardiovascular system

retroesophageal right subclavian artery ( J:188772 )

interrupted aortic arch, type b ( J:188772 )

ventricular septal defect ( J:188772 )

• large

craniofacial

cleft palate ( J:188772 )

hematopoietic system

small thymus ( J:188772 )

digestive/alimentary system

cleft palate ( J:188772 )

immune system

small thymus ( J:188772 )

endocrine/exocrine glands

small thymus ( J:188772 )

growth/size/body

cleft palate ( J:188772 )