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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mbd4/Ift122tm1Abc
targeted mutation 1, Alfonso Bellacosa
MGI:2684311
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc B6.129-Mbd4/Ift122tm1Abc MGI:4888338
hm2
Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc either: (involves: 129S1/Sv * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) MGI:3719422
ht3
Mbd4/Ift122tm1Abc/Mbd4+ B6.129-Mbd4/Ift122tm1Abc MGI:4888342


Genotype
MGI:4888338
hm1
Allelic
Composition
Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic
Background
B6.129-Mbd4/Ift122tm1Abc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbd4/Ift122tm1Abc mutation (0 available); any Mbd4 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

embryo
• absence of V3 interneural cells in the rostral neural tube at the forelimb level at E10.5
• motor neurons expand ventrally and laterally in neural tubes at E10.5

nervous system
• absence of V3 interneural cells in the rostral neural tube at the forelimb level at E10.5
• motor neurons expand ventrally and laterally in neural tubes at E10.5
• motor neurons expand ventrally and laterally in neural tubes at E10.5
• absence of V3 interneural cells in the rostral neural tube at the forelimb level at E10.5

vision/eye

cardiovascular system
• diffuse hemorrhagic lesions

growth/size/body
• in some embryos
• defect in wall closure
• defects in the ventral region of the head
• neck region appears elongated at E9.5
• in some embryos

limbs/digits/tail
• fusion of supernumerary digits at E12.5
• expression analysis indicates defects in patterning at E10.5
• delay in limb outgrowth

cellular
• serum starved MEFs fail to form cilia

digestive/alimentary system
• in some embryos




Genotype
MGI:3719422
hm2
Allelic
Composition
Mbd4/Ift122tm1Abc/Mbd4/Ift122tm1Abc
Genetic
Background
either: (involves: 129S1/Sv * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbd4/Ift122tm1Abc mutation (0 available); any Mbd4 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• following treatment with a methylating agent MNNG, mouse embryonic fibroblasts (MEFs) fail to arrest at the G2-M checkpoint and exhibit a decrease in apoptosis
• MEFs are resistant to apoptosis induced by oxaliplatin, irinotecan and 5-fluorouracil

cellular
• following treatment with a methylating agent MNNG, mouse embryonic fibroblasts (MEFs) fail to arrest at the G2-M checkpoint
• following treatment with a methylating agent MNNG, mouse embryonic fibroblasts (MEFs) exhibit a decrease in apoptosis
• MEFs are resistant to apoptosis induced by oxaliplatin, irinotecan and 5-fluorouracil
• however, MEFs are susceptible to apoptosis induced by an amphotropic avian sarcoma virus-based vector




Genotype
MGI:4888342
ht3
Allelic
Composition
Mbd4/Ift122tm1Abc/Mbd4+
Genetic
Background
B6.129-Mbd4/Ift122tm1Abc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbd4/Ift122tm1Abc mutation (0 available); any Mbd4 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• mutant embryonic cilia appear shorter than wild-type at E8.0

cellular
• mutant embryonic cilia appear shorter than wild-type at E8.0





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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
10/22/2024
MGI 6.24
The Jackson Laboratory