Phenotypes Associated with This Genotype

Genotype
MGI:2176993

• Allelic Composition: Aplp2^tm1Dbo/Aplp2^tm1Dbo; App^tm1Dbo/App^tm1Dbo
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:45851 )

• incomplete penetrance, 80% of mice die within one week of birth

• lethality is not due to cardiopulmonary function as the heart and lungs appeared normal

reproductive system

reduced fertility ( J:45851 )

• no abnormalities in ovaries and testis, indicating that physiological or behavioral correlates, rather than anatomical aspects, are responsible for decrease in fertility

behavior/neurological

absent gastric milk in neonates ( J:45851 )

• most pups have little or no milk in stomach, however no lesions in the face, palate, esophagous, stomach, intestine, or colon were seen and cranial nerves implicated in feeding appeared normal

impaired righting response ( J:45851 )

ataxia ( J:45851 )

weakness ( J:45851 )

• by 12-36 hours after birth, double homozygous mice appear weaker, however mice exhibit normal muscle histology, abundant lower motor neurons in the ventral horn of spinal cords, and normal neuromuscular transmission

head tilt ( J:45851 )

spinning ( J:45851 )

growth/size/body

decreased body size ( J:45851 )

• survivors lag behind in growth and are 20-30% smaller, even into adulthood, compared to controls

integument

pallor ( J:45851 )

• become pale by 12-36 hours after birth

nervous system

abnormal neuromuscular synapse morphology ( J:207796 )

• at E14.5, acetylcholine receptor clusters are less robust compared to in control mice

• however, prepatterned acetylcholine receptors are distributed along the central region