Phenotypes Associated with This Genotype

Genotype
MGI:2450541

• Allelic Composition: Acvr2a^tm1Zuk/Acvr2a^tm1Zuk
• Genetic Background: either: 129 or (involves: 129S7/SvEvBrd * C57BL/6)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cellular

azoospermia ( J:23924 )

♂ • epididymis devoid of spermatozoa at 42 days of age

mortality/aging

neonatal lethality, complete penetrance ( J:23924 )

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

craniofacial

abnormal craniofacial bone morphology ( J:23924 )

• mice displaying facial abnormalities died within minutes of birth

absent incisors ( J:23924 )

• secondary to the hypoplastic mandibles

mandible hypoplasia ( J:23924 )

• 22% of the mice displayed hypoplastic mandibles

• some mice displayed defects in the mandibular cartilage

cleft palate ( J:23924 )

• may be secondary to the hypoplastic mandibles

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:23924 )

N • normal luteinizing hormone (LH) levels in male mice

abnormal ovary morphology ( J:23924 )

♀

absent corpus luteum ( J:23924 )

♀

increased atretic ovarian follicle number ( J:23924 )

♀ • follicular atresia is often observed

abnormal seminiferous tubule morphology ( J:23924 )

♂ • reduction in tubule volume

small testis ( J:23924 )

♂ • exhibited from 21 d of age through adulthoods

homeostasis/metabolism

suppressed circulating follicle stimulating hormone level ( J:23924 )

• decrease FSH levels in both males and females

reproductive system

reproductive system phenotype ( J:23924 )

N • normal stages of spermatogenesis

azoospermia ( J:23924 )

♂ • epididymis devoid of spermatozoa at 42 days of age

abnormal ovary morphology ( J:23924 )

♀

absent corpus luteum ( J:23924 )

♀

increased atretic ovarian follicle number ( J:23924 )

♀ • follicular atresia is often observed

abnormal seminiferous tubule morphology ( J:23924 )

♂ • reduction in tubule volume

small testis ( J:23924 )

♂ • exhibited from 21 d of age through adulthoods

thin uterus ( J:23924 )

♀

delayed male fertility ( J:23924 )

• 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

abnormal estrous cycle ( J:23924 )

♀

female infertility ( J:23924 )

♀

skeleton

abnormal craniofacial bone morphology ( J:23924 )

• mice displaying facial abnormalities died within minutes of birth

absent incisors ( J:23924 )

• secondary to the hypoplastic mandibles

mandible hypoplasia ( J:23924 )

• 22% of the mice displayed hypoplastic mandibles

• some mice displayed defects in the mandibular cartilage

vision/eye

abnormal eyelid morphology ( J:23924 )

• 11% of the mice exhibited closed eyelids

digestive/alimentary system

cleft palate ( J:23924 )

• may be secondary to the hypoplastic mandibles

growth/size/body

absent incisors ( J:23924 )

• secondary to the hypoplastic mandibles

cleft palate ( J:23924 )

• 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