Phenotypes associated with this allele

• Allele Symbol: Ctnnb1^{tm2(Nfkbia)Rsu}
• Allele Name: targeted mutation 2, Ruth Schmidt-Ullrich
• Allele ID: MGI:3039784
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ctnnb1^tm2(Nfkbia)Rsu/Ctnnb1^+ Tg(Myh6-cre)2182Mds/0	B6.Cg-Ctnnb1^tm2(Nfkbia)Rsu Tg(Myh6-cre)2182Mds	MGI:3706583
cn2	Ctnnb1^tm2(Nfkbia)Rsu/Ctnnb1^+ Tg(CMV-cre)1Cgn/0	involves: 129P2/OlaHsd * BALB/cJ * C57BL/6	MGI:3706580
cn3	Ctnnb1^tm2(Nfkbia)Rsu/Ctnnb1^tm2(Nfkbia)Rsu Tg(Runx2-icre)1Jtuc/0	involves: 129P2/OlaHsd * FVB/N	MGI:4455056

Genotype
MGI:3706583

cn1

• Allelic Composition: Ctnnb1^{tm2(Nfkbia)Rsu}/Ctnnb1⁺; Tg(Myh6-cre)2182Mds/0
• Genetic Background: B6.Cg-Ctnnb1^{tm2(Nfkbia)Rsu} Tg(Myh6-cre)2182Mds

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

cardiovascular system

decreased response of heart to induced stress ( J:111645 )

• mutants display an attenuated hypertrophic response compared with controls upon infusion of angiotensin II or isoproterenol as well as reduced expression of hypertrophy markers

homeostasis/metabolism

decreased response of heart to induced stress ( J:111645 )

• mutants display an attenuated hypertrophic response compared with controls upon infusion of angiotensin II or isoproterenol as well as reduced expression of hypertrophy markers

Genotype
MGI:3706580

cn2

• Allelic Composition: Ctnnb1^{tm2(Nfkbia)Rsu}/Ctnnb1⁺; Tg(CMV-cre)1Cgn/0
• Genetic Background: involves: 129P2/OlaHsd * BALB/cJ * C57BL/6

mortality/aging

prenatal lethality, incomplete penetrance ( J:71744 )

• authors state the they observe all phenotypic features of heterozygous Ctnnb1^{tm1(Nfkbia)Rsu} mutants in these mice, however no data is presented in J:71744

immune system

increased leukocyte cell number ( J:71744 )

increased granulocyte number ( J:71744 )

abnormal macrophage physiology ( J:71744 )

abnormal Peyer's patch morphology ( J:71744 )

abnormal lymph node morphology ( J:71744 )

increased inflammatory response ( J:71744 )

increased susceptibility to otitis media ( J:71744 )

keratoconjunctivitis sicca ( J:71744 )

vision/eye

keratoconjunctivitis sicca ( J:71744 )

abnormal eye morphology ( J:71744 )

abnormal eyelid morphology ( J:71744 )

absent Meibomian glands ( J:71744 )

blindness ( J:71744 )

dry eyes ( J:71744 )

growth/size/body

abnormal incisor morphology ( J:71744 )

abnormal molar morphology ( J:71744 )

decreased body size ( J:71744 )

• about 50-70% of wild-type

endocrine/exocrine glands

absent Meibomian glands ( J:71744 )

Harderian gland atrophy ( J:71744 )

• atrophy of Harderian glands

hearing/vestibular/ear

deafness ( J:71744 )

increased susceptibility to otitis media ( J:71744 )

digestive/alimentary system

gastrointestinal hemorrhage ( J:71744 )

abnormal intestinal goblet cell morphology ( J:71744 )

• reduction in the number of intestinal goblet cells

abnormal small intestine morphology ( J:71744 )

• the epithelial structure of the small intestine is loosened

cardiovascular system

gastrointestinal hemorrhage ( J:71744 )

liver hemorrhage ( J:71744 )

craniofacial

abnormal incisor morphology ( J:71744 )

abnormal molar morphology ( J:71744 )

domed cranium ( J:71744 )

hematopoietic system

increased leukocyte cell number ( J:71744 )

increased granulocyte number ( J:71744 )

abnormal macrophage physiology ( J:71744 )

liver/biliary system

liver hemorrhage ( J:71744 )

increased hepatocyte apoptosis ( J:71744 )

• in embryos only

reproductive system

decreased litter size ( J:71744 )

skeleton

abnormal incisor morphology ( J:71744 )

abnormal molar morphology ( J:71744 )

domed cranium ( J:71744 )

limbs/digits/tail

kinked tail ( J:71744 )

behavior/neurological

lethargy ( J:71744 )

tremors ( J:71744 )

hunched posture ( J:71744 )

integument

absent Meibomian glands ( J:71744 )

abnormal hair growth ( J:71744 )

alopecia ( J:71744 )

• patchy alopecia in older mice

sparse hair ( J:71744 )

• thin fur

abnormal hair follicle development ( J:71744 )

sparse vibrissae ( J:71744 )

cellular

abnormal intestinal goblet cell morphology ( J:71744 )

• reduction in the number of intestinal goblet cells

increased hepatocyte apoptosis ( J:71744 )

• in embryos only

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
otitis media		DOID:10754		J:71744

Genotype
MGI:4455056

cn3

• Allelic Composition: Ctnnb1^{tm2(Nfkbia)Rsu}/Ctnnb1^{tm2(Nfkbia)Rsu}; Tg(Runx2-icre)1Jtuc/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

skeleton

skeleton phenotype ( J:160669 )

N • osteoblast apoptosis is normal and differentiation is inhibited by dexamethasone treatment, similar to wild-type