Phenotypes associated with this allele

• Allele Symbol: Del(13Simc1-B4galt7)2Dja
• Allele Name: deletion, Chr 13, David J Adams 2
• Allele ID: MGI:5451135
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Del(13Simc1-B4galt7)2Dja/+	involves: 129P2/OlaHsd * 129S7/SvEvBrd * BALB/cJ * C57BL/6J	MGI:5451185
ht2	Del(13Simc1-B4galt7)2Dja/+	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J	MGI:5451184
ht3	Del(13Simc1-B4galt7)2Dja/+	involves: 129P2/OlaHsd * 129S5/SvEvBrd * 129S7/SvEvBrd * C57BL/6J	MGI:5451187
ht4	Del(13Simc1-B4galt7)2Dja/+	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J * CBA/J	MGI:5451186

Genotype
MGI:5451185

ht1

• Allelic Composition: Del(13Simc1-B4galt7)2Dja/+
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * BALB/cJ * C57BL/6J

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

growth/size/body

decreased fetal size ( J:190741 )

fetal growth retardation ( J:190741 )

Genotype
MGI:5451184

ht2

• Allelic Composition: Del(13Simc1-B4galt7)2Dja/+
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J

Dilation of the renal pelvicalyceal system in Del(13Simc1-B4galt7)2Dja/+ mice

growth/size/body

decreased birth weight ( J:190741 )

decreased lean body mass ( J:190741 )

• at 28 weeks

decreased body weight ( J:190741 )

• at 28 weeks

decreased body length ( J:190741 )

• at 28 weeks

decreased fetal size ( J:190741 )

• at E15.5

fetal growth retardation ( J:190741 )

• at E15.5

renal/urinary system

renal/urinary system phenotype ( J:190741 )

N • mice exhibit normal kidney function and do not develop kidney stones

dilated kidney calyx ( J:190741 )

• at 10, 28 and 52 weeks in all mice

behavior/neurological

abnormal habituation to a novel odor ( J:190741 )

• mice exhibit reduced ability to distinguish familiar stimulus mouse after 24 h and spend more time investigating the familiar mouse compared with wild-type mice

skeleton

skeleton phenotype ( J:190741 )

N • unlike patients with Sotos Syndrome 1, mice do not exhibit skeletal or craniofacial defects

craniofacial

craniofacial phenotype ( J:190741 )

N • unlike patients with Sotos Syndrome 1, mice do not exhibit skeletal or craniofacial defects

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sotos syndrome		DOID:14748	OMIM:PS117550	J:190741

Genotype
MGI:5451187

ht3

• Allelic Composition: Del(13Simc1-B4galt7)2Dja/+
• Genetic Background: involves: 129P2/OlaHsd * 129S5/SvEvBrd * 129S7/SvEvBrd * C57BL/6J

growth/size/body

decreased fetal size ( J:190741 )

fetal growth retardation ( J:190741 )

Genotype
MGI:5451186

ht4

• Allelic Composition: Del(13Simc1-B4galt7)2Dja/+
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J * CBA/J

growth/size/body

decreased fetal size ( J:190741 )

fetal growth retardation ( J:190741 )