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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cibar1tm1b(KOMP)Wtsi
targeted mutation 1b, Wellcome Trust Sanger Institute
MGI:5637028
Summary 2 genotypes


Genotype
MGI:8190800
hm1
Allelic
Composition
Cibar1tm1b(KOMP)Wtsi/Cibar1tm1b(KOMP)Wtsi
Genetic
Background
B6J.B6N-Cibar1tm1b(KOMP)Wtsi
Cell Lines EPD0804_2_A04
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cibar1tm1b(KOMP)Wtsi mutation (1 available); any Cibar1 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice are born at a lower-than-expected Mendelian ratio; 18% of homozygotes versus expected 25% are obtained from heterozygous intercrosses at P7
• however, once born, mice survive to adulthood and appear grossly normal

reproductive system
N
• adult males show abundant presence of motile cilia in the efferent ducts
• basigin (aka CD147) -- a transmembrane glycoprotein that is normally partitioned to the midpiece (MP) membrane of cauda epididymal sperm -- is distributed over the entire flagellar membrane, indicating a defective membrane diffusion barrier
• 65% of cauda epididymal sperm fail to accurately position the annulus at the midpiece-principle piece (MP/PP) junction and have the annulus displaced into the principle piece (PP)
• approximately 41% of cauda epididymal sperm exhibit sharply kinked sperm tails
• cauda epididymal sperm count is significantly lower than in wild-type males
• average adult testis weight is slightly lower than in wild-type males
• however, no overt histological abnormalities are detected on PAS-stained testis sections
• immunofluorescence staining of adult testis sections for CBY3 (chibby family member 3) and the centriolar marker gamma-tubulin shows that CBY3 is NOT detectable at the distal region of the distal centriole, unlike in wild-type spermatids, indicating that annulus recruitment of CBY3 absolutely requires the presence of CIBAR1
• step 9 spermatids show no detectable CBY3 recruitment at the flagellar base; the curved periannular membrane exhibits decreased rigidity, allowing the annulus to migrate over the fibrous sheath into the PP
• when adult males are mated with wild-type females for ~2 months, average litter size is 2.3 +/- 0.4 versus 7.7 +/- 0.8 for wild-type males
• adult males show a 70% reduction in litter size when mated with wild-type females for ~2 months

cellular
• basigin (aka CD147) -- a transmembrane glycoprotein that is normally partitioned to the midpiece (MP) membrane of cauda epididymal sperm -- is distributed over the entire flagellar membrane, indicating a defective membrane diffusion barrier
• 65% of cauda epididymal sperm fail to accurately position the annulus at the midpiece-principle piece (MP/PP) junction and have the annulus displaced into the principle piece (PP)
• approximately 41% of cauda epididymal sperm exhibit sharply kinked sperm tails
• cauda epididymal sperm count is significantly lower than in wild-type males

endocrine/exocrine glands
• average adult testis weight is slightly lower than in wild-type males
• however, no overt histological abnormalities are detected on PAS-stained testis sections




Genotype
MGI:5797530
hm2
Allelic
Composition
Cibar1tm1b(KOMP)Wtsi/Cibar1tm1b(KOMP)Wtsi
Genetic
Background
C57BL/6N-Cibar1tm1b(KOMP)Wtsi/Wtsi
Cell Lines EPD0804_2_A04
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cibar1tm1b(KOMP)Wtsi mutation (1 available); any Cibar1 mutation (21 available)
Data Sources
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue

behavior/neurological
• males show some aberrations in food intake

growth/size/body

hematopoietic system
IMPC - WTSI (J:211773)
MGI (J:274784)

homeostasis/metabolism

immune system
IMPC - WTSI (J:211773)
MGI (J:274784)

limbs/digits/tail
• 28.6% of mice exhibit digit abnormalities
• 4 of 14 mice show either polysyndactyly at the phalanges or an osteoma at one of the metatarsal digits
IMPC - WTSI (J:211773)
MGI
• 64% of mice exhibit a uni- or bilateral extra bone growth or exostosis on the deltoid tuberosity of the humerus (J:274784)

muscle
• 2 of 14 mice show abnormalities at the left stifle (quadriceps tendon) consistent with tendon calcification
• 64% of mice exhibit an extra bone growth or exostosis on the deltoid tuberosity of the humerus, consistent with m. deltoideus tendon calcification

neoplasm
• 4 of 14 mice show either polysyndactyly at the phalanges or an osteoma at one of the metatarsal digits

skeleton
IMPC - WTSI (J:211773)
MGI
• 64% of mice exhibit a uni- or bilateral extra bone growth or exostosis on the deltoid tuberosity of the humerus (J:274784)
• 2 of 14 mice show abnormalities at the left stifle (quadriceps tendon) consistent with tendon calcification
• 64% of mice exhibit an extra bone growth or exostosis on the deltoid tuberosity of the humerus, consistent with m. deltoideus tendon calcification
• 4 of 14 mice show either polysyndactyly at the phalanges or an osteoma at one of the metatarsal digits
• 64% of mice exhibit a uni- or bilateral extra bone growth or exostosis on the deltoid tuberosity of the humerus
• 64% of mice exhibit a uni- or bilateral extra bone growth or exostosis on the deltoid tuberosity of the humerus indicative of a deltoid spur

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
polydactyly DOID:1148 OMIM:174200
OMIM:174700
OMIM:603596
J:274784





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last database update
07/22/2025
MGI 6.24
The Jackson Laboratory