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Phenotypes Associated with This Genotype
Genotype
MGI:7429209
Allelic
Composition
Arb2aTg(Tyr)TpNpin/Arb2aTg(Tyr)TpNpin
Genetic
Background
involves: FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arb2aTg(Tyr)TpNpin mutation (0 available); any Arb2a mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 20% die before P25

behavior/neurological
• hyperactive circling behavior

cardiovascular system
• one of the most frequently observed minor features in more than 50% of mice is malformation of the heart
• a subset of mice display hypertrophy of the left ventricle at E15.5
• a subset of mice display heart malformations such as increased weight at P25

craniofacial
• diverse craniofacial malformations are less frequently observed, including twisted facial bones
• a subset of mice exhibit facial asymmetry
• rarely, malformed outer ears are seen

digestive/alimentary system
N
• gastrointestinal tract of mice found dead before P25 is often filled with air bubbles

embryo
• neural crest cell apoptosis is increased at E10.5
• neural crest cells are closer to the dorsal neural tube than normal at E10.5, suggesting that trunk neural crest cell migration is affected
• neural crest cell proliferation is decreased at E10.5

endocrine/exocrine glands
• hypoplasia of the thymus is a less frequently observed minor feature
• smaller androgen-sensitive seminal vesicles
• tubules are generally less circular and frequently have irregular linings

growth/size/body
• a subset of mice display hypertrophy of the left ventricle at E15.5
• a subset of mice display heart malformations such as increased weight at P25
• a subset of mice exhibit facial asymmetry
• rarely, malformed outer ears are seen
• more than 50% of mice are growth retarded

hearing/vestibular/ear
• rarely, malformed outer ears are seen
• hypoplastic semicircular canals

hematopoietic system
• hypoplasia of the thymus is a less frequently observed minor feature

immune system
• hypoplasia of the thymus is a less frequently observed minor feature

integument
• mice are almost fully depigmented

cellular
• neural crest cell apoptosis is increased at E10.5
• neural crest cells are closer to the dorsal neural tube than normal at E10.5, suggesting that trunk neural crest cell migration is affected
• proliferation of cells in culture from dissociated E10.5 embryos is reduced
• neural crest cell proliferation is decreased at E10.5

muscle
• a subset of mice display hypertrophy of the left ventricle at E15.5

nervous system
• rarely, hydrocephaly is seen is seen in fetuses
• hypoplasia of the olfactory bulbs associated with a decreased sense of smell is a less frequently observed minor feature
• rarely, exencephaly is seen in embryos
• one of the most frequently observed minor features in more than 50% of mice is malformation of the cranial nerves
• E10.5 embryos exhibit extensive mingling between glossopharyngeal (IX) and vagal (X) nerves
• E10.5 embryos exhibit supernumerary sprouting in the facial (VII) nerve

pigmentation
• mice are almost fully depigmented

renal/urinary system
• rarely, hypoplastic kidneys are seen

reproductive system
• smaller androgen-sensitive seminal vesicles
• tubules are generally less circular and frequently have irregular linings
• females present hypoplastic uterine horns at P25
• females show delayed opening of the vaginal cavity after P20
• 25% of genetic males are phenotypic females, indicating male-to-female sex reversal
• both males and females are subfertile

respiratory system
• a subset of mice exhibit partial atresia of the oropharynx at P25

skeleton
• a subset of mice show delayed closure of the fontanelles at E18.5

taste/olfaction
• a less frequently observed minor feature is that some adult mice are less efficient than wild-type mice at distinguishing urine from water

vision/eye
• mice exhibit retinal coloboma
• E12.5 embryos from pregnant females administered rapamycin twice a day between E9.5 and E11.5 (during peak neural crest cell migration) exhibit a 50% decrease in coloboma incidence, however embryos do not look healthy and show growth retardation
• a subset of mice exhibit unilateral eyelid ptosis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
CHARGE syndrome DOID:0050834 OMIM:214800
J:260599


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory