Phenotypes associated with this allele

• Allele Symbol: Cenpb^tm1Khac
• Allele Name: targeted mutation 1, K H Andy Choo
• Allele ID: MGI:2181521
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cenpb^tm1Khac/Cenpb^tm1Khac	B6.129-Cenpb^tm1Khac	MGI:3616471
hm2	Cenpb^tm1Khac/Cenpb^tm1Khac	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2183214
ht3	Cenpb^tm1Khac/Cenpb^tm2Khac	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3528171

Genotype
MGI:3616471

hm1

• Allelic Composition: Cenpb^tm1Khac/Cenpb^tm1Khac
• Genetic Background: B6.129-Cenpb^tm1Khac

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

reproductive system

small testis ( J:60161 )

♂ • 44% smaller than controls but no effect on fertility

abnormal female reproductive system morphology ( J:60161 )

♀

abnormal uterus morphology ( J:60161 , J:88942 )

♀ • by 10 weeks of age, the luminal epithelium and endometrial epithelium are severely disrupted, containing increasing numbers of apoptotic cells (J:60161)

♀ • females lose reproducitve fitness over a number of pregancy cycles due to a significant (90%) reduction in endometrial glands (J:88942)

♀ • specific receptor antibody staining shows functional estrogen and progesterone receptors are present (J:88942)

abnormal endometrium morphology ( J:60161 )

♀ • endometrial glands are sparse and there is evidence of ulceration, hemorrhage, increased leucocyte infiltration, and infection

decreased endometrial gland number ( J:60161 )

♀ • fewer endometrial glands are observed

uterus hypoplasia ( J:60161 )

♀ • uterus is significantly underdeveloped compared to controls

♀ • however, ovaries and Fallopian tubes are normal

abnormal female reproductive system physiology ( J:60161 )

♀ • reproductive competence is severely compromised between 8 and 10 weeks of age

abnormal gestational length ( J:60161 )

♀ • pups were routinely retained beyond expected due date

delayed parturition ( J:60161 )

♀ • slow delivery time resulted in death of most pups

abnormal uterine environment ( J:60161 , J:88942 )

♀ (J:60161)

♀ • the ovary of the mutant is not responsible for abnormal gestation length (J:88942)

♀ • normal ovaries transplanted to mutant females did not improve abnormal gestation (J:88942)

abnormal fertility/fecundity ( J:60161 )

• at the most two, usually unsuccessful pregnancies occur

endocrine/exocrine glands

decreased endometrial gland number ( J:60161 )

♀ • fewer endometrial glands are observed

small testis ( J:60161 )

♂ • 44% smaller than controls but no effect on fertility

mortality/aging

pregnancy-related premature death ( J:60161 )

♀ • in some cases in utero death of whole litters resulted in death of mother

Genotype
MGI:2183214

hm2

• Allelic Composition: Cenpb^tm1Khac/Cenpb^tm1Khac
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

endocrine/exocrine glands

small testis ( J:47171 )

♂ • testes of homozygous animals were 29% smaller than in controls

growth/size/body

decreased body weight ( J:47171 , J:60161 )

• mice appeared uniform in size at birth, and presented with normal weights at weaning; subsequent weight gain lagged behind heterozygous and wild-type control animals (J:47171)

• organ weights and body composition are, overall, proportionally smaller than for controls (J:60161)

reproductive system

oligozoospermia ( J:47171 )

♂ • 39% reduction in for sperm content was noticed in homozygous animals compared to controls, with no loss in reproductive performance

small testis ( J:47171 )

♂ • testes of homozygous animals were 29% smaller than in controls

abnormal uterus morphology ( J:60161 )

♀ • normal myometrium and endometrium but grossly disrupted luminal and glandular epithelium

♀ • abnormalities preclude fertility by 9 months of age

abnormal uterine environment ( J:60161 )

♀

abnormal fertility/fecundity ( J:60161 )

• there is age-dependent reproductive deterioration

• decrease in fecundity is genetic background sensitive, with fertility decreasing as C57BL/6 background increases

reduced female fertility ( J:60161 )

♀ • there is age-dependent reproductive deterioration

♀ • decrease in fertility is genetic background sensitive, with fertility decreasing as C57BL/6 background increases

cellular

oligozoospermia ( J:47171 )

♂ • 39% reduction in for sperm content was noticed in homozygous animals compared to controls, with no loss in reproductive performance

Genotype
MGI:3528171

ht3

• Allelic Composition: Cenpb^tm1Khac/Cenpb^tm2Khac
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

cellular

cellular phenotype ( J:47171 )

N • karyotyping and flow sorting of cells from spleen and bone marrow cultures indicated normal meiosis and mitosis