Phenotypes associated with this allele

• Allele Symbol: Prkar1a^tm2Gsm
• Allele Name: targeted mutation 2, G Stanley McKnight
• Allele ID: MGI:3845256
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Prkar1a^tm2Gsm/Prkar1a^tm2Gsm Tlx2^tm1.1(cre)Rpk/Tlx2^+	involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * C57BL/6N * DBA/2	MGI:3847081
cn2	Prkar1a^tm2Gsm/Prkar1a^tm2Gsm Tg(Cr2-cre)3Cgn/0	involves: 129X1/SvJ * C57BL/6	MGI:3845353
cn3	Prkar1a^tm2Gsm/Prkar1a^tm2Gsm Tg(Plp1-cre)1Bzal/0	involves: 129X1/SvJ * C57BL/6 * C57BL/6N * DBA/2	MGI:3845282

Genotype
MGI:3847081

cn1

• Allelic Composition: Prkar1a^tm2Gsm/Prkar1a^tm2Gsm; Tlx2^{tm1.1(cre)Rpk}/Tlx2⁺
• Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * C57BL/6N * DBA/2

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

digestive/alimentary system

digestive/alimentary phenotype ( J:148464 )

N • despite disruptions in peristalsis, mice exhibit normal myenteric neuron density and enteric neuron distribution

distended duodenum ( J:148464 )

• distended

intestinal hypoperistalsis ( J:148464 )

• inter-migrating motility complex (MCC) intervals increased with age

• regular initiation of MMCs within the proximal colon and robust distal propagation are disrupted

• mice exhibit irregular gastrointestinal tract motor activity and severely impaired peristalsis compared with wild-type mice

abnormal small intestinal transit time ( J:148464 )

• slowed

intestinal obstruction ( J:148464 )

• mice exhibit a similar pseudo-obstruction phenotype observed in Prkar1a^tm1Rpk/Prkar1a^tm1Rpk Tg(Plp1-cre)1Bzal mice

craniofacial

craniofacial phenotype ( J:148464 )

N • unlike Prkar1a^tm1Rpk/Prkar1a^tm1Rpk Tg(Plp1-cre)1Bzal mice, no craniofacial abnormalities are observed

muscle

intestinal hypoperistalsis ( J:148464 )

• inter-migrating motility complex (MCC) intervals increased with age

• regular initiation of MMCs within the proximal colon and robust distal propagation are disrupted

• mice exhibit irregular gastrointestinal tract motor activity and severely impaired peristalsis compared with wild-type mice

Genotype
MGI:3845353

cn2

• Allelic Composition: Prkar1a^tm2Gsm/Prkar1a^tm2Gsm; Tg(Cr2-cre)3Cgn/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6

immune system

abnormal class switch recombination ( J:147785 )

• following stimulation with LPS and LPS plus IL4, splenic B cells exhibit impaired class switch recombination compared with wild-type cells

• however, stimulated B cell proliferation is normal

hematopoietic system

abnormal class switch recombination ( J:147785 )

• following stimulation with LPS and LPS plus IL4, splenic B cells exhibit impaired class switch recombination compared with wild-type cells

• however, stimulated B cell proliferation is normal

Genotype
MGI:3845282

cn3

• Allelic Composition: Prkar1a^tm2Gsm/Prkar1a^tm2Gsm; Tg(Plp1-cre)1Bzal/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * C57BL/6N * DBA/2

mortality/aging

premature death ( J:148464 )

• most mice die before 5 weeks of age

digestive/alimentary system

abnormal small intestine morphology ( J:148464 )

• at time of death, the proximal small intestine is severely distended including the duodenum, sometimes the jejunum, and rarely the ileum

abnormal small intestinal transit time ( J:148464 )

• slowed

craniofacial

abnormal nose morphology ( J:148464 )

• in mild cases, mice exhibit a bulbous nose

short snout ( J:148464 )

• in mild cases

adipose tissue

decreased white adipose tissue amount ( J:148464 )

• at time of death mice have little white adipose tissue

growth/size/body

abnormal nose morphology ( J:148464 )

• in mild cases, mice exhibit a bulbous nose

short snout ( J:148464 )

• in mild cases

decreased body weight ( J:148464 )

• in mild cases, mice exhibit a 30% to 50% reduction in body weight compared to wild-type mice

• in severe cases mice are runted

distended abdomen ( J:148464 )

• in mild cases and more pronounced in severe cases

muscle

muscular atrophy ( J:148464 )

• at time of death

respiratory system

abnormal nose morphology ( J:148464 )

• in mild cases, mice exhibit a bulbous nose

vision/eye

blepharoptosis ( J:148464 )

• in severe cases

dry eyes ( J:148464 )

• in severe cases