Phenotypes associated with this allele

• Allele Symbol: Kdm6a^{tm1b(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1b, Wellcome Trust Sanger Institute
• Allele ID: MGI:5516011
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kdm6a^tm1b(EUCOMM)Wtsi/Kdm6a^tm1b(EUCOMM)Wtsi	either: (involves: C57BL/6 * CD-1) or (involves: 129 * C57BL/6 * CD-1)	MGI:5516063
ot2	Kdm6a^tm1b(EUCOMM)Wtsi/Y	either: (involves: C57BL/6 * CD-1) or (involves: 129 * C57BL/6 * CD-1)	MGI:5516062

Genotype
MGI:5516063

hm1

• Allelic Composition: Kdm6a^{tm1b(EUCOMM)Wtsi}/Kdm6a^{tm1b(EUCOMM)Wtsi}
• Genetic Background: either: (involves: C57BL/6 * CD-1) or (involves: 129 * C57BL/6 * CD-1)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:201868 )

♀ • dead and resorbed by E12.5

♀ • found at expected ratios at E10.5

growth/size/body

decreased embryo size ( J:201868 )

♀ • smaller in size at E10.5

nervous system

open neural tube ( J:201868 )

♀ • in the mid brain region at E10.5

cardiovascular system

abnormal cardiovascular development ( J:201868 )

♀ • hearts small and underdeveloped

abnormal heart morphology ( J:201868 )

♀

failure of heart looping ( J:201868 )

♀ • incomplete

thin interventricular septum ( J:201868 )

♀ • poorly formed and incomplete

small heart ( J:201868 )

♀

myocardial trabeculae hypoplasia ( J:201868 )

♀

thin ventricular wall ( J:201868 )

♀

pericardial edema ( J:201868 )

♀ • in more severe cases

embryo

decreased embryo size ( J:201868 )

♀ • smaller in size at E10.5

open neural tube ( J:201868 )

♀ • in the mid brain region at E10.5

pale yolk sac ( J:201868 )

♀ • reduced vascular blood

homeostasis/metabolism

pericardial edema ( J:201868 )

♀ • in more severe cases

muscle

myocardial trabeculae hypoplasia ( J:201868 )

♀

Genotype
MGI:5516062

ot2

• Allelic Composition: Kdm6a^{tm1b(EUCOMM)Wtsi}/Y
• Genetic Background: either: (involves: C57BL/6 * CD-1) or (involves: 129 * C57BL/6 * CD-1)

mortality/aging

premature death ( J:201868 )

♂ • failure to thrive

♂ • a small number of males survive to adulthood

perinatal lethality, incomplete penetrance ( J:201868 )

♂ • hemizygous males are reduced 83% from expected numbers

♂ • numbers at E18.5 were as expected

growth/size/body

decreased birth body size ( J:201868 )

♂ • small at birth

decreased body size ( J:201868 )

♂ • surviving mice remain runted throughout life

nervous system

exencephaly ( J:201868 )

♂ • a few exencephalic fetuses at E18.5

♂ • otherwise, males are phenotypically normal at E18.5