Phenotypes associated with this allele

• Allele Symbol: Sox9^tm1.1Gsr
• Allele Name: targeted mutation 1.1, Gerd Scherer
• Allele ID: MGI:2385469
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Sox9^tm1.1Gsr/Sox9^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3581014
ht2	Sox9^tm1.1Gsr/Sox9^+	involves: 129S4/SvJae * CD-1	MGI:3817222

Genotype
MGI:3581014

ht1

• Allelic Composition: Sox9^tm1.1Gsr/Sox9⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:75124 )

• die shortly after birth due to respiratory failure caused by cleft palate

craniofacial

cleft secondary palate ( J:75124 )

skeleton

abnormal humerus morphology ( J:75124 )

absent deltoid tuberosity ( J:75124 )

• deltoid tuberosity of the humerus is missing

scapular bone hypoplasia ( J:75124 )

• hypoplastic and malformed scapula

abnormal skeleton development ( J:75124 )

• exhibit bone malformations typically observed in campomelic dysplasia patients

abnormal bone mineralization ( J:75124 )

• premature mineralization occurs in many skeletal elements, including the tail vertebrae

limbs/digits/tail

abnormal humerus morphology ( J:75124 )

absent deltoid tuberosity ( J:75124 )

• deltoid tuberosity of the humerus is missing

digestive/alimentary system

cleft secondary palate ( J:75124 )

growth/size/body

cleft secondary palate ( J:75124 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
campomelic dysplasia		DOID:0050463	OMIM:114290	J:75124

Genotype
MGI:3817222

ht2

• Allelic Composition: Sox9^tm1.1Gsr/Sox9⁺
• Genetic Background: involves: 129S4/SvJae * CD-1

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:141017 )

N • despite islet cell hypoplasia, pancreas size, weight and morphology are normal at E18.5

decreased PP cell number ( J:141017 )

• the number of polypeptide producing cells are reduced

decreased pancreatic alpha cell mass ( J:141017 )

• at E18.5, alpha cell mass is reduced 76% compared to in wild-type mice

decreased pancreatic beta cell mass ( J:141017 )

• at E18.5, beta cell mass is reduced 53% compared to in wild-type mice

decreased pancreatic delta cell number ( J:141017 )

• delta cell numbers are decreased compared to in wild-type mice

pancreatic islet hyperplasia ( J:141017 )

• mice exhibit islet hyperplasia

digestive/alimentary system

digestive/alimentary phenotype ( J:141017 )

N • despite islet cell hypoplasia, pancreas size, weight and morphology are normal at E18.5