Phenotypes Associated with This Genotype

Genotype
MGI:6154633

• Allelic Composition: Nup35^m1Apb/Nup35^m1Apb
• Genetic Background: involves: C57BL/6N

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

digestive/alimentary system

digestive/alimentary phenotype ( J:235141 )

N • ileum morphology/histology (age 6-8 weeks) and gross small intestine morphology (post-mortem)

increased colon goblet cell number ( J:235141 )

• in distal-, mid- and proximal-colon at age 6-8 weeks

abnormal interstitial cell of Cajal morphology ( J:235141 )

• fewer fine processes on ICCs in circular muscle layer of colon at age 6-8 weeks

abnormal intestinal smooth muscle morphology ( J:235141 )

• at age 6-8 weeks

• loss of muscle cells in distal- and mid-colon

• replacement of muscle cells by connective tissue in muscularis externa of colon

• no muscle cells in longitudinal and circular muscle layers in some areas of colon

• variable morphology (chromatin condensations or normal) of nuclei of colon circular layer smooth muscle cells

• many more F4/80+ macrophages in distal- and mid-colon muscles

• external muscle layers in newborn mice

megacolon ( J:235141 )

• fecal impaction within colon (post-mortem)

intestinal mucus accumulation ( J:235141 )

• patches of thick adherent mucus in distal-, mid- and proximal-colon at age 6-8 weeks

mortality/aging

premature death ( J:235141 )

• 50% of mice die by age 55 days

• no mice survive beyond age 120 days

prenatal lethality, incomplete penetrance ( J:235141 )

• mice born at lower than expected Mendelian ratio (15% vs 25%)

nervous system

abnormal enteric ganglia morphology ( J:235141 )

• many more F4/80+ macrophages associated with myenteric ganglia at age 6-8 weeks

muscle

muscle phenotype ( J:235141 )

N • pelvic floor striated muscle morphology/histology

abnormal intestinal smooth muscle morphology ( J:235141 )

• at age 6-8 weeks

• loss of muscle cells in distal- and mid-colon

• replacement of muscle cells by connective tissue in muscularis externa of colon

• no muscle cells in longitudinal and circular muscle layers in some areas of colon

• variable morphology (chromatin condensations or normal) of nuclei of colon circular layer smooth muscle cells

• many more F4/80+ macrophages in distal- and mid-colon muscles

• external muscle layers in newborn mice

hematopoietic system

hematopoietic system phenotype ( J:235141 )

N • gross spleen and thymus morphology/histology (post-mortem)

abnormal macrophage morphology ( J:235141 )

• at age 6-8 weeks

• more rounded shape of macrophages in colon

• many more F4/80+ macrophages associated with myenteric ganglia

• many more F4/80+ macrophages in distal- and mid-colon muscles

liver/biliary system

liver/biliary system phenotype ( J:235141 )

N • gross liver morphology/histology (post-mortem)

cardiovascular system

cardiovascular system phenotype ( J:235141 )

N • gross heart morphology/histology (post-mortem)

immune system

abnormal macrophage morphology ( J:235141 )

• at age 6-8 weeks

• more rounded shape of macrophages in colon

• many more F4/80+ macrophages associated with myenteric ganglia

• many more F4/80+ macrophages in distal- and mid-colon muscles

endocrine/exocrine glands

increased colon goblet cell number ( J:235141 )

• in distal-, mid- and proximal-colon at age 6-8 weeks

abnormal submucosal gland morphology ( J:235141 )

• thickening of distal- and mid-colon submucosa at age 6-8 weeks, with increased number of macrophages

renal/urinary system

renal/urinary system phenotype ( J:235141 )

N • gross kidney and urinary bladder morphology/histology (post-mortem) and urinary bladder smooth muscle morphology/histology

respiratory system

respiratory system phenotype ( J:235141 )

N • gross lung morphology/histology (post-mortem)

cellular

increased colon goblet cell number ( J:235141 )

• in distal-, mid- and proximal-colon at age 6-8 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
intestinal pseudo-obstruction		DOID:0080072		J:235141