Phenotypes associated with this allele

• Allele Symbol: Dnaaf3^em1Yoga
• Allele Name: endonuclease-mediated mutation 1, Yong Gao
• Allele ID: MGI:8321913
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dnaaf3^em1Yoga/Dnaaf3^em1Yoga	involves: 129 * C57BL/6J	MGI:8322196
hm2	Dnaaf3^em1Yoga/Dnaaf3^em1Yoga	involves: C57BL/6J	MGI:8322198

Genotype
MGI:8322196

hm1

• Allelic Composition: Dnaaf3^em1Yoga/Dnaaf3^em1Yoga
• Genetic Background: involves: 129 * C57BL/6J

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

mortality/aging

lethality during fetal growth through weaning, complete penetrance ( J:354218 )

• no survivors beyond age P21

• few homozygous mice born (well below expected Mendelian ratios)

postnatal lethality, complete penetrance ( J:354218 )

• no survivors beyond age P21

Genotype
MGI:8322198

hm2

• Allelic Composition: Dnaaf3^em1Yoga/Dnaaf3^em1Yoga
• Genetic Background: involves: C57BL/6J

cardiovascular system

abnormal pulmonary vein morphology ( J:354218 )

• congested and dilated

cellular

absent acrosome ( J:354218 )

• no acrosomic granules observed

decreased spermatid number ( J:354218 )

abnormal spermatocyte morphology ( J:354218 )

• most germ cells are pachytene stage spermatocytes

endocrine/exocrine glands

small seminiferous tubules ( J:354218 )

testis hypoplasia ( J:354218 )

• ~70% reduction of volume

growth/size/body

decreased body weight ( J:354218 )

• ~60% reduction

megacephaly ( J:354218 )

mortality/aging

mortality/aging ( J:354218 )

N • mice born at normal Mendelian ratio

postnatal lethality, complete penetrance ( J:354218 )

• no survivors beyond age P21

nervous system

non-obstructive hydrocephaly ( J:354218 )

increased brain size ( J:354218 )

dilated brain ventricle ( J:354218 )

thin cerebral cortex ( J:354218 )

reproductive system

absent acrosome ( J:354218 )

• no acrosomic granules observed

decreased spermatid number ( J:354218 )

abnormal spermatocyte morphology ( J:354218 )

• most germ cells are pachytene stage spermatocytes

small seminiferous tubules ( J:354218 )

testis hypoplasia ( J:354218 )

• ~70% reduction of volume

abnormal spermiogenesis ( J:354218 )

• most germ cells are pachytene stage spermatocytes

respiratory system

abnormal pulmonary alveolus epithelial cell morphology ( J:354218 )

• increased proliferation and dense arrangement

thick pulmonary interalveolar septum ( J:354218 )