Mouse Genome Informatics
hm1
    Ctnnb1tm1(Nfkbia)Rsu/Ctnnb1tm1(Nfkbia)Rsu
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• homozygotes are not viable; time of lethality is not stated


Mouse Genome Informatics
ht2
    Ctnnb1tm1(Nfkbia)Rsu/Ctnnb1+
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• mutants reaching adulthood have slanted eyes
• after about 1 month, mutants develop conjunctivitis
• mutants acquire severe keratoconjunctivits sicca, due to a reduced immune response, eventually resulting in blindness
• keratiniziation of the corneal epithelium is seen after 6 months of age
• hyperproliferation of the corneal stroma is detected after 6 months of age
• margins of the eyelids are thickened, caused by a hyperproliferative epidermis of the eyelid margin
• palpebral fissures are narrowed
• 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
• outgrowth of incisors is delayed
• outgrowth of molars is delayed
• abnormal incisor positioning
• incisors do not reach normal lengths in adults
• molars do not reach normal lengths in adults
• 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
• outgrowth of incisors is delayed
• outgrowth of molars is delayed
• abnormal incisor positioning
• incisors do not reach normal lengths in adults
• molars do not reach normal lengths in adults

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

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
• 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
OMIM IDRef(s)
Otitis Media, Susceptibility to 166760 J:71744