Phenotypes Associated with This Genotype

Genotype
MGI:3054675

• Allelic Composition: Papss2^bm/Papss2^bm
• Genetic Background: LDJ/Le

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

Abnormal skeletal development of Papss2^bm/Papss2^bm (right) mice at P0, P10 and P3

mortality/aging

premature death ( J:5109 )

• a few mutants die from malocclusion

craniofacial

decreased cranium height ( J:5109 )

• skull length is 89% of normal

malocclusion ( J:5109 )

• in some cases leads to death

domed cranium ( J:5109 )

• short, domed skull

cleft palate ( J:15031 )

• increased sensitivity to hydrocortisone induced development of cleft palate

• at E14 palate development was 8 to 12 hours behind normal even without experimental intervention

digestive/alimentary system

abnormal digestive system morphology ( J:5109 )

• at 30 days of age the gut length was 91% of normal

• by 60 days of age, gut length was normal

cleft palate ( J:15031 )

• increased sensitivity to hydrocortisone induced development of cleft palate

• at E14 palate development was 8 to 12 hours behind normal even without experimental intervention

growth/size/body

malocclusion ( J:5109 )

• in some cases leads to death

cleft palate ( J:15031 )

• increased sensitivity to hydrocortisone induced development of cleft palate

• at E14 palate development was 8 to 12 hours behind normal even without experimental intervention

decreased body length ( J:5109 )

• body length is 90% of normal

abnormal body weight ( J:5109 )

• organ weights at 30 days of age about 70-76% normal

• at 60 days of age organ weights varied between 78 and 140% of normal

postnatal growth retardation ( J:5109 )

• retarded growth rate during first 4 weeks of life

• eventually attain near normal body weight

• body length about 90% normal

limbs/digits/tail

abnormal tail morphology ( J:5109 )

short tail ( J:5109 )

• tail length is about 69% of normal

thick tail ( J:5109 )

skeleton

decreased cranium height ( J:5109 )

• skull length is 89% of normal

malocclusion ( J:5109 )

• in some cases leads to death

domed cranium ( J:5109 )

• short, domed skull

abnormal long bone epiphyseal plate morphology ( J:49338 )

abnormal long bone epiphyseal plate proliferative zone ( J:5109 )

• proliferating cartilage cell columns are shorter

decreased width of hypertrophic chondrocyte zone ( J:5109 )

decreased long bone epiphyseal plate size ( J:5109 )

• thinner epiphyseal plates

decreased length of long bones ( J:5109 , J:49338 )

• limb bones from 63 to 86% of normal length (J:5109)

abnormal trabecular bone morphology ( J:5109 )

• primary trabeculae are shorter, less numerous, and not aligned as well as in controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondyloepimetaphyseal dysplasia, Pakistani type		DOID:0050812	OMIM:612847	J:5109