Phenotypes Associated with This Genotype

Genotype
MGI:5515353

• Allelic Composition: Chd2^{Gt(RRBO46)Byg}/Chd2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:137079 )

• fewer than expected mice are present at weaning

reproductive system

uterus cyst ( J:137079 )

♀ • cystic endometrial hyperplasia in 3 of 8 female mice

endometrium hyperplasia ( J:137079 )

♀ • cystic endometrial hyperplasia in 3 of 8 female mice

adipose tissue

absent subcutaneous adipose tissue ( J:137079 )

• absent or extremely hypoplastic

decreased subcutaneous adipose tissue amount ( J:137079 )

• absent or extremely hypoplastic

cardiovascular system

abnormal blood vessel morphology ( J:137079 )

• filling defects in the distal vasculature of the distal extremities

increased heart atrium size ( J:137079 )

• mild to moderate in some neonates

growth/size/body

uterus cyst ( J:137079 )

♀ • cystic endometrial hyperplasia in 3 of 8 female mice

decreased body size ( J:137079 )

postnatal growth retardation ( J:137079 )

integument

absent subcutaneous adipose tissue ( J:137079 )

• absent or extremely hypoplastic

decreased subcutaneous adipose tissue amount ( J:137079 )

• absent or extremely hypoplastic

renal/urinary system

cortical renal glomerulopathies ( J:137079 )

• glomerulonephropathy in 15 of 32 adult mice

• however, neonatal mice exhibit normal renal histopathology

skeleton

lordokyphosis ( J:137079 )

• lordokyphosis at 4 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:137079