About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2450541
Allelic
Composition
Acvr2atm1Zuk/Acvr2atm1Zuk
Genetic
Background
either: 129 or (involves: 129S7/SvEvBrd * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Zuk mutation (1 available); any Acvr2a mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• epididymis devoid of spermatozoa at 42 days of age

mortality/aging
• 22% (mice exhibiting craniofacial defects) died within minutes of birth

craniofacial
• mice displaying facial abnormalities died within minutes of birth
• 22% of the mice displayed hypoplastic mandibles
• some mice displayed defects in the mandibular cartilage
• secondary to the hypoplastic mandibles
• may be secondary to the hypoplastic mandibles

endocrine/exocrine glands
N
• normal luteinizing hormone (LH) levels in male mice
• follicular atresia observed
• reduction in tubule volume
• exhibited from 21 d of age through adulthoods

homeostasis/metabolism
• decrease FSH levels in both males and females

reproductive system
N
• normal stages of spermatogenesis
• epididymis devoid of spermatozoa at 42 days of age
• follicular atresia observed
• reduction in tubule volume
• exhibited from 21 d of age through adulthoods
• average age of male fertility was 78 d, compared to 59 d in heterozygous littermates
• putatively resulting from a decrease in the amount of spermatozoa

skeleton
• mice displaying facial abnormalities died within minutes of birth
• 22% of the mice displayed hypoplastic mandibles
• some mice displayed defects in the mandibular cartilage
• secondary to the hypoplastic mandibles

vision/eye
• 11% of the mice exhibited closed eyelids

digestive/alimentary system
• may be secondary to the hypoplastic mandibles

growth/size/body
• secondary to the hypoplastic mandibles
• may be secondary to the hypoplastic mandibles

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Weissenbacher-Zweymuller syndrome DOID:4258 OMIM:261800
J:23924


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/14/2017
MGI 6.11
The Jackson Laboratory