About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ctnnb1tm1(Nfkbia)Rsu
targeted mutation 1, Ruth Schmidt-Ullrich
MGI:3039783
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ctnnb1tm1(Nfkbia)Rsu/Ctnnb1tm1(Nfkbia)Rsu involves: 129P2/OlaHsd * C57BL/6 MGI:3706573
ht2
Ctnnb1tm1(Nfkbia)Rsu/Ctnnb1+ involves: 129P2/OlaHsd * C57BL/6 MGI:3706574


Genotype
MGI:3706573
hm1
Allelic
Composition
Ctnnb1tm1(Nfkbia)Rsu/Ctnnb1tm1(Nfkbia)Rsu
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1tm1(Nfkbia)Rsu mutation (0 available); any Ctnnb1 mutation (49 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes are not viable; time of lethality is not stated




Genotype
MGI:3706574
ht2
Allelic
Composition
Ctnnb1tm1(Nfkbia)Rsu/Ctnnb1+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1tm1(Nfkbia)Rsu mutation (0 available); any Ctnnb1 mutation (49 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 50% of mutants live less than 6 months
• the maximum life span is 1 year
• a proportion of mutants die during embryogenesis

immune system
• granulocytosis
• impaired macrophage activity
• Peyer's patches are reduced in size and numbers in 90% of mutants
• Peyer's patches are absent in 10% of mutants
• mutants posses only small numbers of minute axilar/brachial lymph nodes
• mutants posses only small numbers of minute axilar/brachial lymph nodes
• mutants have only small numbers of superficial cervical lymph nodes
• absent draining popliteal lymph nodes
• absent peripheral lymph nodes
• middle ear exhibits chronic otitis media
• after about 1 month, mutants develop conjunctivitis
• mutants acquire severe keratoconjunctivits sicca, due to a reduced immune response, eventually resulting in blindness
• mutants infected with Leishmania major develop significantly more severe lesions than wild-type; increased infection susceptibility is caused by reduced NOS2 activity in macrophages and not by type I T-helper-cell deficiencies

vision/eye
• after about 1 month, mutants develop conjunctivitis
• mutants acquire severe keratoconjunctivits sicca, due to a reduced immune response, eventually resulting in blindness
• mutants reaching adulthood have slanted eyes
• keratinization of the corneal epithelium is seen after 6 months of age
• hyperproliferation of the corneal stroma is detected after 6 months of age
• palpebral fissures are narrowed
• margins of the eyelids are thickened, caused by a hyperproliferative epidermis of the eyelid margin
• eyes open only after 2.5-3 weeks after birth
• however, the eye-bulb, conjunctiva, and the cornea develop normally
• blindness occurs as a result of severe keratoconjunctivitis sicca
• the eyes dehydrate with time due to the absence of the Meibomian glands

growth/size/body
• abnormal incisor positioning
• incisors do not reach normal lengths in adults
• molars do not reach normal lengths in adults
• outgrowth of incisors is delayed
• outgrowth of molars is delayed
• mutants reaching adulthood are small and thin, about 50-70% of wild-type

endocrine/exocrine glands
• atrophy of Harderian glands
• the sweat glands are absent in the foot pads

hearing/vestibular/ear
• hearing tests reveal deafness starting at 4-6 weeks of age
• middle ear exhibits chronic otitis media

digestive/alimentary system
• lethal bleedings in the gut
• reduction in the number of intestinal goblet cells
• the epithelial structure of the small intestine is loosened

cardiovascular system
• lethal bleedings in the gut
• lethal bleedings in the liver

craniofacial
• abnormal incisor positioning
• incisors do not reach normal lengths in adults
• molars do not reach normal lengths in adults
• outgrowth of incisors is delayed
• outgrowth of molars is delayed

hematopoietic system
• granulocytosis
• impaired macrophage activity

homeostasis/metabolism
• reduced nitric oxide production

liver/biliary system
• lethal bleedings in the liver
• livers show an increase in embryonic (E12.5-14.5) hepatocyte apoptosis
• however, mutants surviving to birth and adulthood, do not show gross liver abnormalities

reproductive system

skeleton
• abnormal incisor positioning
• incisors do not reach normal lengths in adults
• molars do not reach normal lengths in adults
• outgrowth of incisors is delayed
• outgrowth of molars is delayed

limbs/digits/tail
• in the foot pads, plicae digitalis (deeply indented transversed folds) and sweat glands are absent

behavior/neurological
• mutants show equilibrium problems
• however, the inner ear structure and hair cells show no abnormalities

integument
• mutants exhibit an increased rate of apoptosis in many pelage follicles
• the sweat glands are absent in the foot pads
• the only hair type found in mutants reaching adulthood is a monotrich-awl intermediate
• mutants reaching adulthood have shaggy fur
• mutants reaching adulthood have no hair on the tail and behind the ears
• patchy alopecia in older mice
• hair follicles develop at a slower rate
• no anlagen for hair follicles is seen in the tail
• newborns produce very few hair follicles and the reduced number of hair follicles persists throughout adulthood
• mutants exhibit an increased rate of apoptosis in many vibrissal follicles
• mutants reaching adulthood have fewer vibrissae

cellular
• reduction in the number of intestinal goblet cells
• mutants exhibit an increased rate of apoptosis in many pelage follicles
• livers show an increase in embryonic (E12.5-14.5) hepatocyte apoptosis
• however, mutants surviving to birth and adulthood, do not show gross liver abnormalities

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





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
12/10/2024
MGI 6.24
The Jackson Laboratory