Phenotypes associated with this allele

• Allele Symbol: Dnase2a^tm1Aea
• Allele Name: targeted mutation 1, Alan Eastman
• Allele ID: MGI:3040926
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dnase2a^tm1Aea/Dnase2a^tm1Aea	involves: 129 * C57BL/6	MGI:3040937

Genotype
MGI:3040937

hm1

• Allelic Composition: Dnase2a^tm1Aea/Dnase2a^tm1Aea
• Genetic Background: involves: 129 * C57BL/6

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

mortality/aging

perinatal lethality, complete penetrance ( J:89469 )

• homozygous mutant embryos were still viable at E18.5 but died at birth probably due to asphyxiation

cellular

abnormal apoptosis ( J:89469 )

• mutants exhibited a defect in the phagocytic phase of apoptosis: they contained large DNA-containing bodies (DCBs) that resulted from engulfed but undigested cell corpses

• DCBs were TUNEL-positive and ~10-fold larger than normal nuclei

• at E13.5, DCBs were predominantly found in the liver, base of the diaphragm, brain, spinal cord, adrenal gland and many other tissues; the liver contained the highest number of DCBs

• at E14, DCBs persisted in the cerebellum and choroid plexus of mutant embryos; apoptosis is normally absent in these tissues at this stage

• at E15.5, DCBs were also found in the interdigital region, where apoptosis normally occurs to remove webbing

hematopoietic system

abnormal definitive hematopoiesis ( J:89469 )

• mutants displayed abnormal fetal definitive erythropoiesis in the liver and failed to degrade erythrocyte DNA

anemia ( J:89469 )

• newborn mutant mice appeared grossly normal but were anemic

muscle

diaphragmatic hernia ( J:89469 )

• mutant lungs failed to inflate and exhibited a diaphragmatic hernia

thin diaphragm muscle ( J:89469 )