Mouse Genome Informatics
ht1
     Amer1tm1.2Nbar/Amer1+
involves: 129S4/SvJae * C57BL/6 * CD-1 * SJL
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
growth/size
increased fetal size ( J:173242 )
• less severe than in hemizygous mutant males (J:173242)

skeleton


Mouse Genome Informatics
ot2
     Amer1tm1.2Nbar/Y
involves: 129S4/SvJae * C57BL/6 * CD-1 * SJL
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
mortality/aging

homeostasis/metabolism
cyanosis ( J:173242 )
(J:173242)

cardiovascular system
enlarged heart ( J:173242 )
• dramatic overgrowth (J:173242)

growth/size

renal/urinary system
abnormal kidney morphology ( J:173242 )
• kidneys may display agenesis or over growth, with both conditions often seen in the same animal (J:173242)
• unilateral or bilateral renal agenesis is seen in 64% of mice (J:173242)
• kidneys that do form have an expanded population of mesenchymal progenitor cells (J:173242)
abnormal kidney development ( J:173242 )
• the Wolffian duct remains detached from the ureteric bud at E13.5 in some mice (J:173242)
• absence of ureteric bud derived structures at E13.5 in some mice (J:173242)
abnormal metanephric mesenchyme morphology ( J:173242 )
• expression analysis indicates that the metanephric mesenchyme is specified but fails to condense and undergo epithelialization (J:173242)
increased metanephric mesenchyme apoptosis ( J:173242 )
• widespread apoptosis is seen in many mice (J:173242)
enlarged kidney ( J:173242 )
• kidneys that do form are significantly enlarged (J:173242)
absent kidney ( J:173242 )
(J:173242)
single kidney ( J:173242 )
(J:173242)
abnormal ureteric bud morphology ( J:173242 )
• absence of ureteric bud derived structures at E13.5 in some mice (J:173242)

embryogenesis
abnormal Wolffian duct morphology ( J:173242 )
• the Wolffian duct remains detached from the ureteric bud at E13.5 in some mice (J:173242)

skeleton
abnormal skeleton morphology ( J:173242 )
• dramatic bone overgrowth (J:173242)
abnormal cranial suture morphology ( J:173242 )
• malformation of the postnatal suture (J:173242)
enlarged cranium ( J:173242 )
(J:173242)
abnormal neurocranium morphology ( J:173242 )
• enlarged cranial vault (J:173242)
• abnormally distant ossification fronts in the perinatal cranial vault (J:173242)
abnormal long bone morphology ( J:173242 )
• discontinuous cortical bone layer at E15.5 (J:173242)
abnormal deltoid tuberosity morphology ( J:173242 )
• malformed or absent (J:173242)
abnormal radius morphology ( J:173242 )
• enlarged and bowed (J:173242)
bowed radius ( J:173242 )
(J:173242)
abnormal ulna morphology ( J:173242 )
• enlarged and bowed (J:173242)
bowed ulna ( J:173242 )
(J:173242)
abnormal sternum ossification ( J:173242 )
• asymmetrical distribution of ossification centers (J:173242)
abnormal compact bone morphology ( J:173242 )
• massive increases in mineralized matrix (J:173242)
osteosclerosis ( J:173242 )
(J:173242)
abnormal bone mineralization ( J:173242 )
• decreased mineralization of the trabecular area in long bones perinatally (J:173242)
• massive increases in mineralized matrix in the compact bone (J:173242)
abnormal endochondral bone ossification ( J:173242 )
• deficiency in endochondral bone ossification (J:173242)
delayed endochondral bone ossification ( J:173242 )
• delayed ossification of the long bones at E14.5 (J:173242)
• discontinuous cortical bone layer in long bones at E15.5 (J:173242)
abnormal intramembranous bone ossification ( J:173242 )
• deficiency in intramembranous bone ossification (J:173242)
delayed intramembranous bone ossification ( J:173242 )
• abnormally distant ossification fronts in the perinatal cranial vault (J:173242)

adipose tissue
decreased brown adipose tissue amount ( J:173242 )
• severely reduced (J:173242)
decreased white adipose tissue amount ( J:173242 )
• severely reduced (J:173242)
decreased total body fat amount ( J:173242 )
• hypoplastic adipose tissue (J:173242)

hematopoietic system

immune system

craniofacial
abnormal cranial suture morphology ( J:173242 )
• malformation of the postnatal suture (J:173242)
enlarged cranium ( J:173242 )
(J:173242)
abnormal neurocranium morphology ( J:173242 )
• enlarged cranial vault (J:173242)
• abnormally distant ossification fronts in the perinatal cranial vault (J:173242)

limbs/digits/tail
abnormal deltoid tuberosity morphology ( J:173242 )
• malformed or absent (J:173242)
abnormal radius morphology ( J:173242 )
• enlarged and bowed (J:173242)
bowed radius ( J:173242 )
(J:173242)
abnormal ulna morphology ( J:173242 )
• enlarged and bowed (J:173242)
bowed ulna ( J:173242 )
(J:173242)

cellular
increased metanephric mesenchyme apoptosis ( J:173242 )
• widespread apoptosis is seen in many mice (J:173242)

Mouse Models of Human Disease
 OMIM IDRef(s)
Osteopathia Striata with Cranial Sclerosis; OSCS 300373 J:173242