Phenotypes associated with this allele

• Allele Symbol: Cbx2^tm1Cim
• Allele Name: targeted mutation 1, Centre d'Immunologie de Marseille Luminy
• Allele ID: MGI:1857631
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cbx2^tm1Cim/Cbx2^tm1Cim	(129P2/Ola x BALB/c)F1	MGI:2168052
hm2	Cbx2^tm1Cim/Cbx2^tm1Cim	involves: 129P2/OlaHsd * BALB/c	MGI:3039875

Genotype
MGI:2168052

hm1

• Allelic Composition: Cbx2^tm1Cim/Cbx2^tm1Cim
• Genetic Background: (129P2/Ola x BALB/c)F1

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:38487 )

• 50% die within a few hours of birth

postnatal lethality, incomplete penetrance ( J:38487 )

• 90% are dead within 4 week

growth/size/body

abnormal body weight ( J:38487 )

• a few days after birth pups weigh one fourth of littermate control weight

Genotype
MGI:3039875

hm2

• Allelic Composition: Cbx2^tm1Cim/Cbx2^tm1Cim
• Genetic Background: involves: 129P2/OlaHsd * BALB/c

mortality/aging

premature death ( J:38487 )

• only 10% survive until 6 weeks of age

neonatal lethality, incomplete penetrance ( J:38487 )

• 50% die within a few hours of birth

postnatal lethality, incomplete penetrance ( J:38487 )

• 90% are dead within 4 weeks

cellular

decreased fibroblast proliferation ( J:38487 )

• in vitro assays show fibroblast proliferative response is twofold less than normal

decreased splenocyte proliferation ( J:38487 )

• in vitro assays show splenocyte proliferative response is twofold less than normal

growth/size/body

abnormal body weight ( J:38487 )

• a few days after birth pups weigh one fourth of littermate control weight

hematopoietic system

decreased splenocyte proliferation ( J:38487 )

• in vitro assays show splenocyte proliferative response is twofold less than normal

arrested T cell differentiation ( J:38487 )

• failure of T cell maturation; pro-T cell numbers are as expected but normal numbers of mature T cells are not found

immune system

decreased splenocyte proliferation ( J:38487 )

• in vitro assays show splenocyte proliferative response is twofold less than normal

arrested T cell differentiation ( J:38487 )

• failure of T cell maturation; pro-T cell numbers are as expected but normal numbers of mature T cells are not found

reproductive system

secondary sex reversal ( J:48123 )

• male to female sex-reversal

skeleton

abnormal skeleton morphology ( J:38487 )

• retinoic acid exacerbates skeletal malformations compared to wild-type implicating this allele in regulation of retinoic acid during development

abnormal scapula morphology ( J:38487 )

• incomplete scapular formation on one or both sides results in split ossification center

decreased sternebra number ( J:38487 )

• presence of five rather than six sternebrae

decreased rib number ( J:38487 )

• mice have six rather than seven vertebrosternal ribs

abnormal cervical atlas morphology ( J:38487 )

• fusion of ossification centers produces exoccipital/atlas malformations

fusion of atlas and occipital bones ( J:38487 )

• the basioccipital bone fuses to the first cervical vertebra

vertebral transformation ( J:38487 )

• homeotic transformations are seen over the entire axis

craniofacial

fusion of atlas and occipital bones ( J:38487 )

• the basioccipital bone fuses to the first cervical vertebra