Phenotypes Associated with This Genotype

Genotype
MGI:2677920

• Allelic Composition: Mafb^tm1Mhs/Mafb^tm1Mhs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

perinatal lethality, complete penetrance ( J:85746 )

• mice die within 2 hours of birth exhibiting respiratory distress and cyanosis

homeostasis/metabolism

cyanosis ( J:85746 )

respiratory system

abnormal respiration ( J:85746 )

• mutants exhibit defective respiratory rhythmogenesis as indicated by a reduced frequency of inspiratory bursts in E18.5 brainstems

abnormal breathing pattern ( J:85746 )

• mice do not initiate normal breathing

apnea ( J:85746 )

• intermittent deep gasping rather than normal breathing

respiratory distress ( J:85746 )

• mutants do not initiate normal breathing behavior and ventilate essentially by intermittent deep gasping movements

respiratory failure ( J:85746 )

• defective rhythmogenesis due to defects in the central respiratory control

• the lungs, trachea, and intercostal musculature appear normal

nervous system

nervous system phenotype ( J:85746 )

N • no defects observed with the innervation of the diaphragm

abnormal brainstem morphology ( J:85746 )

• overall organization of the preBotzinger complex, a putative principle sit of respiratory rhythmogenesis, is disrupted with a loss of about 1/3 of NK1R-positive cells

abnormal nervous system physiology ( J:85746 )

• brainstems are unresponsive to electrolytic lesion or stimulation of the preBotzinger complex

• brainstems are unresponsive to modulation of respiratory rhythmogenesis by hypoxia or peptidergic input