All Phenotypes Amer1<tm1.2Nbar> MGI Mouse

mortality/aging

neonatal lethality, complete penetrance ( J:173242 )

homeostasis/metabolism

cyanosis ( J:173242 )

cardiovascular system

enlarged heart ( J:173242 )

• dramatic overgrowth

increased heart weight ( J:173242 )

growth/size/body

enlarged heart ( J:173242 )

• dramatic overgrowth

increased heart weight ( J:173242 )

increased fetal size ( J:173242 )

increased fetal weight ( J:173242 )

enlarged kidney ( J:173242 )

• kidneys that do form are significantly enlarged

renal/urinary system

abnormal kidney morphology ( J:173242 )

• kidneys may display agenesis or over growth, with both conditions often seen in the same animal

• unilateral or bilateral renal agenesis is seen in 64% of mice

• kidneys that do form have an expanded population of mesenchymal progenitor cells

enlarged kidney ( J:173242 )

• kidneys that do form are significantly enlarged

abnormal kidney development ( J:173242 )

• the Wolffian duct remains detached from the ureteric bud at E13.5 in some mice

• absence of ureteric bud derived structures at E13.5 in some mice

abnormal metanephric mesenchyme morphology ( J:173242 )

• expression analysis indicates that the metanephric mesenchyme is specified but fails to condense and undergo epithelialization

increased metanephric mesenchyme apoptosis ( J:173242 )

• widespread apoptosis is seen in many mice

absent kidney ( J:173242 )

single kidney ( J:173242 )

abnormal ureteric bud morphology ( J:173242 )

• absence of ureteric bud derived structures at E13.5 in some mice

embryo

increased metanephric mesenchyme apoptosis ( J:173242 )

• widespread apoptosis is seen in many mice

abnormal Wolffian duct morphology ( J:173242 )

• the Wolffian duct remains detached from the ureteric bud at E13.5 in some mice

skeleton

abnormal skeleton morphology ( J:173242 )

• dramatic bone overgrowth

abnormal cranial suture morphology ( J:173242 )

• malformation of the postnatal suture

enlarged cranium ( J:173242 )

increased cranium width ( J:173242 )

abnormal neurocranium morphology ( J:173242 )

• abnormally distant ossification fronts in the perinatal cranial vault

enlarged neurocranium ( J:173242 )

• enlarged cranial vault

abnormal long bone morphology ( J:173242 )

• discontinuous cortical bone layer at E15.5

abnormal deltoid tuberosity morphology ( J:173242 )

• malformed or absent

absent deltoid tuberosity ( J:173242 )

bowed radius ( J:173242 )

increased radius size ( J:173242 )

• enlarged radius

abnormal ulna morphology ( J:173242 )

• enlarged and bowed

bowed ulna ( J:173242 )

abnormal sternum morphology ( J:173242 )

abnormal compact bone morphology ( J:173242 )

• massive increases in mineralized matrix

osteosclerosis ( J:173242 )

abnormal bone mineralization ( J:173242 )

• decreased mineralization of the trabecular area in long bones perinatally

• massive increases in mineralized matrix in the compact bone

abnormal endochondral bone ossification ( J:173242 )

• deficiency in endochondral bone ossification

abnormal sternum ossification ( J:173242 )

• asymmetrical distribution of ossification centers

delayed endochondral bone ossification ( J:173242 )

• delayed ossification of the long bones at E14.5

• discontinuous cortical bone layer in long bones at E15.5

abnormal intramembranous bone ossification ( J:173242 )

• deficiency in intramembranous bone ossification

delayed intramembranous bone ossification ( J:173242 )

• abnormally distant ossification fronts in the perinatal cranial vault

adipose tissue

decreased brown adipose tissue amount ( J:173242 )

• severely reduced

decreased white adipose tissue amount ( J:173242 )

• severely reduced

decreased total body fat amount ( J:173242 )

• hypoplastic adipose tissue

hematopoietic system

spleen hypoplasia ( J:173242 )

immune system

spleen hypoplasia ( J:173242 )

craniofacial

abnormal cranial suture morphology ( J:173242 )

• malformation of the postnatal suture

enlarged cranium ( J:173242 )

increased cranium width ( J:173242 )

abnormal neurocranium morphology ( J:173242 )

• abnormally distant ossification fronts in the perinatal cranial vault

enlarged neurocranium ( J:173242 )

• enlarged cranial vault

limbs/digits/tail

abnormal deltoid tuberosity morphology ( J:173242 )

• malformed or absent

absent deltoid tuberosity ( J:173242 )

bowed radius ( J:173242 )

increased radius size ( J:173242 )

• enlarged radius

abnormal ulna morphology ( J:173242 )

• enlarged and bowed

bowed ulna ( J:173242 )

cellular

increased metanephric mesenchyme apoptosis ( J:173242 )

• widespread apoptosis is seen in many mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteopathia striata with cranial sclerosis		DOID:0060886	OMIM:300373	J:173242

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

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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