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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Lmod1em1Jomm
endonuclease-mediated mutation 1, Joseph M Miano
MGI:8174728
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Lmod1em1Jomm/Lmod1em1Jomm Not Specified MGI:8174751
ht2
Lmod1em1Jomm/Lmod1em2Jomm Not Specified MGI:8174749


Genotype
MGI:8174751
hm1
Allelic
Composition
Lmod1em1Jomm/Lmod1em1Jomm
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmod1em1Jomm mutation (0 available); any Lmod1 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• failure of urine emptying into the bladder
• some mice exhibit hydronephrosis due to the failure of urine emptying into the bladder
• 2-fold decrease in the concentration of dense bodies in the bladder
• mice show a defect in dense bodies of bladder detrusor SMCs
• the length of cytoskeletal dense bodies in longitudinally oriented SMCs is nearly 3x greater than in wild-type mice
• early onset thinning of detrusor muscle of the bladder, with postnatal mice showing thinning and compaction of the visceral smooth muscle layers
• postnatal mice show loss of the transitional epithelium of the bladder
• mice exhibit distention of the bladder beginning at E18.5
• in some cases, the developing bladder expands as much as to encroach upon the abdominal cavity
• 100% of mice show enlargement of the urinary bladder after parturition and the first feeding

muscle
• postnatal mice exhibit thinning and compaction of the visceral smooth muscle layers in the stomach
• mice show a defect in dense bodies of bladder detrusor SMCs
• the length of cytoskeletal dense bodies in longitudinally oriented SMCs is nearly 3x greater than in wild-type mice
• early onset thinning of detrusor muscle of the bladder, with postnatal mice showing thinning and compaction of the visceral smooth muscle layers
• the outer longitudinal layer of the intestine shows an increase in Ki67 staining of smooth muscle cells (SMCs) but no obvious signs of cell death as measured by TUNEL staining is seen
• more than 3-fold decrease in KCL- or carbachol-induced contractility in intestinal ring segments indicating intestinal hypoperistalsis
• mice show a notable lack of tensile strength in jejunum ring segments as indicated by a lower level of passive tension in response to mechanical expansion
• more than 3-fold decrease in KCL- or carbachol-induced contractility in intestinal ring segments
• failure of urine emptying into the bladder

digestive/alimentary system
• mice show a defect in dense bodies of the intestine, although to a lesser extent than in the bladder detrusor SMCs
• decrease in intestinal length, but no evidence of microcolon is seen
• 100% of mice show enlargement of the stomach after parturition and the first feeding
• however, few histological changes are seen in the intestine and stomach
• more than 3-fold decrease in KCL- or carbachol-induced contractility in intestinal ring segments indicating intestinal hypoperistalsis
• most likely caused by intestinal hypoperistalsis

cellular
• reduction in filamentous actin
• however, no ultrastructural actin filament perturbations are seen in the bladder or intestine

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
megacystis-microcolon-intestinal hypoperistalsis syndrome DOID:0060610 OMIM:155310
J:241933




Genotype
MGI:8174749
ht2
Allelic
Composition
Lmod1em1Jomm/Lmod1em2Jomm
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmod1em1Jomm mutation (0 available); any Lmod1 mutation (29 available)
Lmod1em2Jomm mutation (0 available); any Lmod1 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice do not exhibit any noticeable defects





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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
03/25/2025
MGI 6.24
The Jackson Laboratory