Phenotypes Associated with This Genotype

Genotype
MGI:3530074

• Allelic Composition: Atrx^tm1Rjg/Y; Foxg1^tm1(cre)Skm/Foxg1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

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

mortality/aging

postnatal lethality, complete penetrance ( J:95953 )

♂ • mutant males die within 24 - 48 hours of birth, with only 1 male surviving to 24 days of age

behavior/neurological

absent gastric milk in neonates ( J:95953 )

♂ • mutant males lack milk in their stomachs

abnormal suckling behavior ( J:95953 )

♂ • mutant males do not suckle well

growth/size/body

decreased birth body size ( J:95953 )

♂ • mutants are smaller at birth

nervous system

absent dentate gyrus ( J:95953 )

♂ • the dentate gyrus is replaced by a mass of disorganized cells

decreased hippocampus pyramidal cell number ( J:95953 )

♂ • reduced numbers of CA1 and CA3 pyramidal neurons are seen

loss of hippocampal neurons ( J:95953 )

♂ • the subiculum and hippocampus are reduced in size

loss of cortex neurons ( J:95953 )

♂ • the frontal cortex is reduced in size especially in the caudal-medial cortex and cell density is decreased in the cortex as a result of increased cell death and not a change in proliferation

♂ • cell numbers in the cortical plate are reduced by 20-30%

♂ • cell loss is not seen at E13.5 but is significant at E15.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alpha thalassemia-X-linked intellectual disability syndrome		DOID:0110030	OMIM:301040	J:95953