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Phenotypes Associated with This Genotype
Genotype
MGI:5882502
Allelic
Composition
Cpeb2tm1.2Yshu/Cpeb2tm1.2Yshu
Genetic
Background
involves: 129S/Sv * C57BL/6 * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cpeb2tm1.2Yshu mutation (0 available); any Cpeb2 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice are born at normal Mendelian ratios but show a gradual reduction in survival from P1 to P3, with most mice dying within 3 days of birth
• surviving mice live to 12 months or longer without obvious physical problems

cardiovascular system
• heart rate is stable, rhythmic but slightly reduced at P1
• however, cardiac morphology is grossly normal

respiratory system
• whole-body plethysmography revealed severe respiratory arrhythmia with frequent apnea
• however, tidal volume is normal at P1, and mice exhibit a normal hypercapnic ventilatory response with a comparable increase in tidal volume relative to wild-type controls
• however, lung morphology is grossly normal with properly inflated alveoli
• pups exhibit aberrant respiration patterns at P1
• inspiratory time and expiratory time are prolonged under normoxic or hypercapnic conditions
• peak inspiratory flow (PIF) and peak expiratory flow (PEF) are both lower than those in wild-type mice under normoxia
• under hypercapnia, the PEF, but not the PIF, can be rescued to a level similar to that in hypercapnia-treated wild-type mice
• pups exhibit significantly reduced respiratory frequency at P1
• under hypercapnic conditions, respiratory frequency can be rescued to a level indistinguishable from that in wild-type littermates under normoxia but slightly less than that in hypercapnia-treated wild-type mice
• pups exhibit significantly increased apneic episodes and duration at P1
• inhalation of nebulized tiotropium, an anticholinergic bronchodilator, results in partial rescue of the apneic phenotype
• increased parasympathetic signaling leads to hyperactivated bronchoconstriction, as shown by elevated pulmonary acetylcholine levels and increased phosphorylated myosin light chain 2 signal (denoted by alpha-SMA staining) in bronchial smooth muscles at P1

nervous system
N
• at P1, the pre-Botzinger complex and parafacial respiratory group (pFRG) appear morphologically normal, as shown by the distribution and expression of NK1R, a respiratory rhythm generator (RRG) marker
• in isolated brainstem-spinal cord preparations, the activities of C4 ventral roots are stable and rhythmic, with bursting frequencies similar to those in wild-type preparations
• no obvious alterations are detected in pontine and medullary (nor)adrenergic neurons or in diaphragm neuromuscular junctions
• pulmonary acetylcholine level is significantly increased at P1
• increased ChAT expression is restricted to central preganglionic parasympathetic neurons
• no alteration in ChAT expression is noted in airway postganglionic neurons near the dorsal trachea and medial bronchi
• increased parasympathetic signaling leads to hyperactivated bronchoconstriction and abnormal respiration

homeostasis/metabolism
• pulmonary acetylcholine level is significantly increased at P1
• choline acetyltransferase (ChAT) expression is increased by ~48% in the dorsal motor nucleus of vagus (DMNV)
• however, ChAT levels in the nucleus ambiguus (NA) and the facial motor nucleus (FMN) are not significantly altered

growth/size/body
N
• body weight is normal at E18.5, P0 and P1


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/06/2019
MGI 6.14
The Jackson Laboratory