Mouse Genome Informatics
hm
    Hrastm2Xbr/Hrastm2Xbr
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Virgin Hrastm2Xbr/Hrastm2Xbr females display mammary gland hyperplasia

tumorigenesis
N
• most (19/20) mice are tumor free at 18 months of age whereas about 10% pf humans with a comparable mutation develop various tumors (J:137729)
• one mouse in 20 has a mammary adenocarcinoma at 18 months
• epithelial in origin

endocrine/exocrine glands
• increased alveolar proliferation (J:137729)
• slight decrease in adipose tissue (J:137729)
• ductal ectasia (J:137729)
• mild periductal-alveolar fibrosis (J:137729)
• increased ductal branching (J:137729)
• greater ductal-lobulillar development (J:137729)
• in females at around 4 months of age (J:137729)

craniofacial
• depression of anterior frontal bones
• shortened maxilla
• shortened molar process
• facial dysmorphia
• defects observed neonatally
• engrossed lips due to accumulation of adipocytes between skeletal muscle fascicules
• more sebaceous glands
• shorter elastin fibers
• shortened and depressed nasal bridge
• narrowed choanae

cardiovascular system
N
• heart rate normal (J:137729)
• blood vessels generally more reactive to angiotensin II
• develop severe thickening and remodeling of aorta media over time
• changes less pronounced at 6 months than at 4 months
• sarcomere organization normal
• enlarged heart chambers at 4 months
• overall increase in size of walls and chambers
• cell size and density normal
• enlarged
• other heart valves normal
• enlarged heart chambers at 4 months
• increased cardiomyocyte size
• elevated interstitial collagen deposition
• overall increase in size of walls and chamber
• cell size and density normal
• systemic hypertension
• at least partially due to elevated circulating levels of angiotensin II
• pulmonary blood pressure is normal

renal/urinary system
N
• urine production normal (J:137729)
• sodium, potassium, chlorine excretion all normal (J:137729)

homeostasis/metabolism
• elevated circulating levels of angiotensin II

respiratory system
N
• breathing normal (J:137729)

skeleton
• depression of anterior frontal bones
• shortened maxilla
• shortened molar process

integument
• increased alveolar proliferation (J:137729)
• slight decrease in adipose tissue (J:137729)
• ductal ectasia (J:137729)
• mild periductal-alveolar fibrosis (J:137729)
• increased ductal branching (J:137729)
• greater ductal-lobulillar development (J:137729)
• in females at around 4 months of age (J:137729)
• distention and rounding of vibrissal follicles

growth/size/body
• facial dysmorphia
• defects observed neonatally
• engrossed lips due to accumulation of adipocytes between skeletal muscle fascicules
• more sebaceous glands
• shorter elastin fibers
• shortened and depressed nasal bridge
• narrowed choanae

Mouse Models of Human Disease
OMIM IDRef(s)
Costello Syndrome; CSTLO 218040 J:137729