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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Acvr2atm1Zuk
targeted mutation 1, Martin M Matzuk
MGI:1861779
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Acvr2atm1Zuk/Acvr2atm1Zuk either: 129 or (involves: 129S7/SvEvBrd * C57BL/6) MGI:2450541
hm2
Acvr2atm1Zuk/Acvr2atm1Zuk involves: 129S7/SvEvBrd MGI:2665042


Genotype
MGI:2450541
hm1
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 (38 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
• secondary to the hypoplastic mandibles
• 22% of the mice displayed hypoplastic mandibles
• some mice displayed defects in the mandibular cartilage
• may be secondary to the hypoplastic mandibles

endocrine/exocrine glands
N
• normal luteinizing hormone (LH) levels in male mice
• follicular atresia is often 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 is often 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
• secondary to the hypoplastic mandibles
• 22% of the mice displayed hypoplastic mandibles
• some mice displayed defects in the mandibular cartilage

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




Genotype
MGI:2665042
hm2
Allelic
Composition
Acvr2atm1Zuk/Acvr2atm1Zuk
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Zuk mutation (1 available); any Acvr2a mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• 39% decrease in the number of sertoli cells relative to wild-type
• 60% reduction in weight relative to wild-type

reproductive system
• 60% reduction in round spermatids
• 46% reduction in spermatogonia
• decline in germ cell numbers that becomes more marked as spermatogenesis progresses; 46% reduction in A and I spermatogonia and a 60% reduction in round spermatids
• 39% decrease in the number of sertoli cells relative to wild-type
• 60% reduction in weight relative to wild-type

cellular
• 60% reduction in round spermatids
• 46% reduction in spermatogonia
• decline in germ cell numbers that becomes more marked as spermatogenesis progresses; 46% reduction in A and I spermatogonia and a 60% reduction in round spermatids





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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory