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 EuPh Europhenome
N normal phenotype
growth/size
• 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 EuPh Europhenome
N normal phenotype
mortality/aging

homeostasis/metabolism
(J:173242)

cardiovascular system
• dramatic overgrowth (J:173242)

growth/size
• hypoplastic adipose tissue (J:173242)

renal/urinary system
• 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)
• 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)
• expression analysis indicates that the metanephric mesenchyme is specified but fails to condense and undergo epithelialization (J:173242)
• widespread apoptosis is seen in many mice (J:173242)
• kidneys that do form are significantly enlarged (J:173242)
(J:173242)
(J:173242)
• absence of ureteric bud derived structures at E13.5 in some mice (J:173242)

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

skeleton
• dramatic bone overgrowth (J:173242)
• malformation of the postnatal suture (J:173242)
(J:173242)
• enlarged cranial vault (J:173242)
• abnormally distant ossification fronts in the perinatal cranial vault (J:173242)
• discontinuous cortical bone layer at E15.5 (J:173242)
• malformed or absent (J:173242)
• enlarged and bowed (J:173242)
(J:173242)
• enlarged and bowed (J:173242)
(J:173242)
• asymmetrical distribution of ossification centers (J:173242)
• massive increases in mineralized matrix (J:173242)
(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)
• deficiency in 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)
• deficiency in intramembranous bone ossification (J:173242)
• abnormally distant ossification fronts in the perinatal cranial vault (J:173242)

adipose tissue
• severely reduced (J:173242)
• severely reduced (J:173242)
• hypoplastic adipose tissue (J:173242)

hematopoietic system

immune system

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

limbs/digits/tail
• malformed or absent (J:173242)
• enlarged and bowed (J:173242)
(J:173242)
• enlarged and bowed (J:173242)
(J:173242)

cellular
• 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