Phenotypes associated with this allele

• Allele Symbol: Satb2^tm1(cre)Vit
• Allele Name: targeted mutation 1, Victor Tarabykin
• Allele ID: MGI:3695425
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Satb2^tm1(cre)Vit/Satb2^tm1(cre)Vit	involves: C57BL/6	MGI:3695609
ht2	Satb2^tm1(cre)Vit/Satb2^+	involves: C57BL/6	MGI:3695610

Genotype
MGI:3695609

hm1

• Allelic Composition: Satb2^tm1(cre)Vit/Satb2^tm1(cre)Vit
• Genetic Background: involves: C57BL/6

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

mortality/aging

perinatal lethality ( J:116770 )

craniofacial

abnormal hyoid bone morphology ( J:116770 )

• malformed

abnormal jaw morphology ( J:116770 )

• the mesenchymal component of the jaw that normally expresses Satb2 fails to elaborate during development

• midline structures form, while parasagital elements (i.e. incisors and associated alveolar bone) fail to form

• at E10.5, initial patterning of the jaw appears similar to wild-type; however by E11.5 increased apoptosis is seen in the mandibular BA1, maxillary BA1, and frontonasal mesenchyme regions that normally express Satb2

absent incisors ( J:116770 )

• fully penetrant

abnormal molar morphology ( J:116770 )

• variable enlargement of the molar dental buds and these enlarged buds contain elaborate epithelial folds

premaxilla hypoplasia ( J:116770 )

• hypoplasia is more severe than in heterozygotes

micrognathia ( J:116770 )

abnormal nasal capsule morphology ( J:116770 )

• hypoplasia is more severe than in heterozygotes

cleft palate ( J:116770 )

• fully penetrant

decreased tongue size ( J:116770 )

• severe

respiratory system

abnormal nasal capsule morphology ( J:116770 )

• hypoplasia is more severe than in heterozygotes

digestive/alimentary system

cleft palate ( J:116770 )

• fully penetrant

decreased tongue size ( J:116770 )

• severe

absent submandibular gland ( J:116770 )

• fail to form

limbs/digits/tail

short limbs ( J:116770 )

endocrine/exocrine glands

absent submandibular gland ( J:116770 )

• fail to form

skeleton

abnormal hyoid bone morphology ( J:116770 )

• malformed

abnormal jaw morphology ( J:116770 )

• the mesenchymal component of the jaw that normally expresses Satb2 fails to elaborate during development

• midline structures form, while parasagital elements (i.e. incisors and associated alveolar bone) fail to form

• at E10.5, initial patterning of the jaw appears similar to wild-type; however by E11.5 increased apoptosis is seen in the mandibular BA1, maxillary BA1, and frontonasal mesenchyme regions that normally express Satb2

absent incisors ( J:116770 )

• fully penetrant

abnormal molar morphology ( J:116770 )

• variable enlargement of the molar dental buds and these enlarged buds contain elaborate epithelial folds

premaxilla hypoplasia ( J:116770 )

• hypoplasia is more severe than in heterozygotes

micrognathia ( J:116770 )

abnormal nasal capsule morphology ( J:116770 )

• hypoplasia is more severe than in heterozygotes

growth/size/body

absent incisors ( J:116770 )

• fully penetrant

abnormal molar morphology ( J:116770 )

• variable enlargement of the molar dental buds and these enlarged buds contain elaborate epithelial folds

abnormal nasal capsule morphology ( J:116770 )

• hypoplasia is more severe than in heterozygotes

cleft palate ( J:116770 )

• fully penetrant

decreased tongue size ( J:116770 )

• severe

microcephaly ( J:116770 )

• more severe than in heterozygotes

Genotype
MGI:3695610

ht2

• Allelic Composition: Satb2^tm1(cre)Vit/Satb2⁺
• Genetic Background: involves: C57BL/6

mortality/aging

preweaning lethality, incomplete penetrance ( J:116770 )

• fewer found at weaning than expected (about 35% compared to the expected 50%)

craniofacial

abnormal jaw morphology ( J:116770 )

• at E11.5 a variable increase in apoptosis is seen in the mandibular BA1, maxillary BA1, and frontonasal mesenchyme regions that normally express Satb2

abnormal incisor morphology ( J:116770 )

• variable incisor hypodontia and or adontia

premaxilla hypoplasia ( J:116770 )

abnormal nasal capsule morphology ( J:116770 )

• hypoplasia

decreased mouth size ( J:116770 )

• small mouth

cleft palate ( J:116770 )

• seen in about 1/4 of mice

asymmetric snout ( J:116770 )

• snout is occasionally asymmetric

short snout ( J:116770 )

• snout is strongly truncated

respiratory system

abnormal nasal capsule morphology ( J:116770 )

• hypoplasia

skeleton

abnormal jaw morphology ( J:116770 )

• at E11.5 a variable increase in apoptosis is seen in the mandibular BA1, maxillary BA1, and frontonasal mesenchyme regions that normally express Satb2

abnormal incisor morphology ( J:116770 )

• variable incisor hypodontia and or adontia

premaxilla hypoplasia ( J:116770 )

abnormal nasal capsule morphology ( J:116770 )

• hypoplasia

digestive/alimentary system

cleft palate ( J:116770 )

• seen in about 1/4 of mice

growth/size/body

abnormal incisor morphology ( J:116770 )

• variable incisor hypodontia and or adontia

abnormal nasal capsule morphology ( J:116770 )

• hypoplasia

decreased mouth size ( J:116770 )

• small mouth

cleft palate ( J:116770 )

• seen in about 1/4 of mice

asymmetric snout ( J:116770 )

• snout is occasionally asymmetric

short snout ( J:116770 )

• snout is strongly truncated

microcephaly ( J:116770 )

• slight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
isolated cleft palate		DOID:0110213	OMIM:119540	J:116770