Phenotypes associated with this allele

• Allele Symbol: Sim2^tm1Shmb
• Allele Name: targeted mutation 1, M J Shamblott
• Allele ID: MGI:2384488
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sim2^tm1Shmb/Sim2^tm1Shmb	involves: 129S4/SvJae * C57BL/6J	MGI:3723057

Genotype
MGI:3723057

hm1

• Allelic Composition: Sim2^tm1Shmb/Sim2^tm1Shmb
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:78252 )

• mutants do not survive to weaning

craniofacial

abnormal pterygoid process morphology ( J:78252 )

• 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

abnormal tooth development ( J:78252 )

• tooth development is slightly delayed in some mutants

abnormal palate morphology ( J:78252 )

• the secondary palate is thin in mutants with a partial cleft palate

• developing palates are hypocellular and at E14.5 contain excess hyaluronan

palatal shelf hypoplasia ( J:78252 )

• in 75% of mutant mice, the palatal shelves are present but vestigial

decreased palatal length ( J:78252 )

• in mutants with a partial cleft, the palate is often shortened due to posterior cleft, with extension to the hyoid bone

cleft secondary palate ( J:78252 )

• 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

protruding tongue ( J:78252 )

• in mutants with full cleft, the dorsum of the tongue appears protrusive in correspondence with the malformed palatal shelves

digestive/alimentary system

abnormal palate morphology ( J:78252 )

• the secondary palate is thin in mutants with a partial cleft palate

• developing palates are hypocellular and at E14.5 contain excess hyaluronan

palatal shelf hypoplasia ( J:78252 )

• in 75% of mutant mice, the palatal shelves are present but vestigial

decreased palatal length ( J:78252 )

• in mutants with a partial cleft, the palate is often shortened due to posterior cleft, with extension to the hyoid bone

cleft secondary palate ( J:78252 )

• 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

protruding tongue ( J:78252 )

• in mutants with full cleft, the dorsum of the tongue appears protrusive in correspondence with the malformed palatal shelves

aerophagia ( J:78252 )

• aerophagia, air swallowing with subsequent accumulation of air in the gastrointestinal tract

meteorism ( J:78252 )

• aerophagia results in accumulation of air in the gastrointestinal tract

respiratory system

abnormal nasopharynx morphology ( J:78252 )

• in mutants with partial cleft, the nasopharynx is often restricted in area

respiratory distress ( J:78252 )

• mutants have difficult breathing

skeleton

abnormal pterygoid process morphology ( J:78252 )

• 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

abnormal tooth development ( J:78252 )

• tooth development is slightly delayed in some mutants

growth/size/body

abnormal tooth development ( J:78252 )

• tooth development is slightly delayed in some mutants

abnormal palate morphology ( J:78252 )

• the secondary palate is thin in mutants with a partial cleft palate

• developing palates are hypocellular and at E14.5 contain excess hyaluronan

palatal shelf hypoplasia ( J:78252 )

• in 75% of mutant mice, the palatal shelves are present but vestigial

decreased palatal length ( J:78252 )

• in mutants with a partial cleft, the palate is often shortened due to posterior cleft, with extension to the hyoid bone

cleft secondary palate ( J:78252 )

• 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

protruding tongue ( J:78252 )

• in mutants with full cleft, the dorsum of the tongue appears protrusive in correspondence with the malformed palatal shelves

meteorism ( J:78252 )

• aerophagia results in accumulation of air in the gastrointestinal tract

homeostasis/metabolism

increased hyaluronic acid level ( J:78252 )

• developing palates are hypocellular and at E14.5 contain excess hyaluronan