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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sim2tm1Shmb
targeted mutation 1, M J Shamblott
MGI:2384488
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sim2tm1Shmb/Sim2tm1Shmb involves: 129S4/SvJae * C57BL/6J MGI:3723057


Genotype
MGI:3723057
hm1
Allelic
Composition
Sim2tm1Shmb/Sim2tm1Shmb
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sim2tm1Shmb mutation (0 available); any Sim2 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants do not survive to weaning

craniofacial
• pterygoid processes of the sphenoid bone are either absent or abnormally formed in mutants with a full cleft palate
• pterygoid processes are malformed, lacking a formative area, in mutants with a partial cleft palate
• tooth development is slightly delayed in some mutants
• the secondary palate is thin in mutants with a partial cleft palate
• developing palates are hypocellular and at E14.5, contain excess hyaluronan
• in 75% of mutant mice, the palatal shelves are present but vestigial
• in mutants with a partial cleft, the palate is often shortened due to posterior cleft, with extension to the hyoid bone
• 75% of mutants exhibit cleft of the secondary palate
• 25% of mutants display a partial cleft; the palates are very thin and/or shortened caudally
• in mutants with full cleft, the dorsum of the tongue appears protrusive in correspondence with the malformed palatal shelves

digestive/alimentary system
• the secondary palate is thin in mutants with a partial cleft palate
• developing palates are hypocellular and at E14.5, contain excess hyaluronan
• in 75% of mutant mice, the palatal shelves are present but vestigial
• in mutants with a partial cleft, the palate is often shortened due to posterior cleft, with extension to the hyoid bone
• 75% of mutants exhibit cleft of the secondary palate
• 25% of mutants display a partial cleft; the palates are very thin and/or shortened caudally
• in mutants with full cleft, the dorsum of the tongue appears protrusive in correspondence with the malformed palatal shelves
• aerophagia, air swallowing with subsequent accumulation of air in the gastrointestinal tract
• aerophagia results in accumulation of air in the gastrointestinal tract

respiratory system
• in mutants with partial cleft, the nasopharynx is often restricted in area
• mutants have difficult breathing

skeleton
• pterygoid processes of the sphenoid bone are either absent or abnormally formed in mutants with a full cleft palate
• pterygoid processes are malformed, lacking a formative area, in mutants with a partial cleft palate
• tooth development is slightly delayed in some mutants

growth/size/body
• tooth development is slightly delayed in some mutants
• the secondary palate is thin in mutants with a partial cleft palate
• developing palates are hypocellular and at E14.5, contain excess hyaluronan
• in 75% of mutant mice, the palatal shelves are present but vestigial
• in mutants with a partial cleft, the palate is often shortened due to posterior cleft, with extension to the hyoid bone
• 75% of mutants exhibit cleft of the secondary palate
• 25% of mutants display a partial cleft; the palates are very thin and/or shortened caudally
• in mutants with full cleft, the dorsum of the tongue appears protrusive in correspondence with the malformed palatal shelves
• aerophagia results in accumulation of air in the gastrointestinal tract





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
03/19/2024
MGI 6.23
The Jackson Laboratory