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Phenotypes Associated with This Genotype
Genotype
MGI:5086005
Allelic
Composition
Amer1tm1.2Nbar/Y
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Amer1tm1.2Nbar mutation (0 available); any Amer1 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

homeostasis/metabolism

cardiovascular system
• dramatic overgrowth

growth/size/body

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

embryo
• widespread apoptosis is seen in many mice
• the Wolffian duct remains detached from the ureteric bud at E13.5 in some mice

skeleton
• dramatic bone overgrowth
• malformation of the postnatal suture
• abnormally distant ossification fronts in the perinatal cranial vault
• enlarged cranial vault
• discontinuous cortical bone layer at E15.5
• enlarged and bowed
• enlarged and bowed
• asymmetrical distribution of ossification centers
• massive increases in mineralized matrix
• decreased mineralization of the trabecular area in long bones perinatally
• massive increases in mineralized matrix in the compact bone
• deficiency in endochondral bone ossification
• delayed ossification of the long bones at E14.5
• discontinuous cortical bone layer in long bones at E15.5
• deficiency in intramembranous bone ossification
• abnormally distant ossification fronts in the perinatal cranial vault

adipose tissue
• hypoplastic adipose tissue

hematopoietic system

immune system

craniofacial
• malformation of the postnatal suture
• abnormally distant ossification fronts in the perinatal cranial vault
• enlarged cranial vault

limbs/digits/tail
• enlarged and bowed
• enlarged and bowed

cellular
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/07/2017
MGI 6.11
The Jackson Laboratory