Phenotypes associated with this allele

• Allele Symbol: Gabrb3^tm2.1Geh
• Allele Name: targeted mutation 2.1, Gregg E Homanics
• Allele ID: MGI:3767248
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gabrb3^tm2.1Geh/Gabrb3^tm2.1Geh	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3767259
cn2	Gabrb3^tm2.1Geh/Gabrb3^tm2.1Geh Tg(Camk2a-cre)T29-1Stl/?	involves: 129 * BALB/c * C57BL/6 * SJL	MGI:3767262
cn3	Gabrb3^tm2.1Geh/Gabrb3^tm2.1Geh Tg(Syn1-cre)671Jxm/?	involves: 129 * C57BL/6 * CBA * SJL	MGI:3767261
cn4	Gabrb3^tm2.1Geh/Gabrb3^tm2.1Geh Tg(Cd4-cre)1Cwi/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2	MGI:7642167

Genotype
MGI:3767259

hm1

• Allelic Composition: Gabrb3^tm2.1Geh/Gabrb3^tm2.1Geh
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

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

normal phenotype

no abnormal phenotype detected ( J:127877 )

• mice were born at the expected frequency, were viable, did not have cleft palate, and were overtly indistinguishable from control litter-mates

Genotype
MGI:3767262

cn2

• Allelic Composition: Gabrb3^tm2.1Geh/Gabrb3^tm2.1Geh; Tg(Camk2a-cre)T29-1Stl/?
• Genetic Background: involves: 129 * BALB/c * C57BL/6 * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:127877 )

• born at expected Mendelian frequency

• no cleft palate found

• about 30% die between 15 and 25 days after birth

• 72% of mice that died prematurely were male

behavior/neurological

abnormal behavior ( J:127877 )

• hyperresponsive to human contact

impaired behavioral response to xenobiotic ( J:127877 )

• less sensitive to the sedative/hypnotic effects of etomidate

increased food intake ( J:127877 )

• average food consumption was greater in mutant over control

hyperactivity ( J:127877 )

• the greater total activity in home cage

abnormal maternal nurturing ( J:127877 )

♀ • failed to care for pups

reduced male mating frequency ( J:127877 )

♂ • did not produce copulation plug when mated with superovulated females

absence seizures ( J:127877 )

• appeared to be "frozen" in their home cage

nervous system

absence seizures ( J:127877 )

• appeared to be "frozen" in their home cage

reproductive system

reduced female fertility ( J:127877 )

♀ • four out of six female either did not produce any offspring or produced letters infrequently

reduced male fertility ( J:127877 )

♂ • reduced number of mating

growth/size/body

obese ( J:127877 )

• some mutant adult mice became obese

Genotype
MGI:3767261

cn3

• Allelic Composition: Gabrb3^tm2.1Geh/Gabrb3^tm2.1Geh; Tg(Syn1-cre)671Jxm/?
• Genetic Background: involves: 129 * C57BL/6 * CBA * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:127877 )

• born at expected Mendelian frequency

• no cleft palate found

• about 61% died before weaning, many within a few days after birth

behavior/neurological

behavior/neurological phenotype ( J:127877 )

N • homozygous mice that survived beyond weaning were normal and fertile

N • unlike global knockout, they did not display foot clasping behavior, hyperactivity, seizures, or tremors

impaired behavioral response to xenobiotic ( J:127877 )

• less sensitive to the sedative/hypnotic effects of etomidate

Genotype
MGI:7642167

cn4

• Allelic Composition: Gabrb3^tm2.1Geh/Gabrb3^tm2.1Geh; Tg(Cd4-cre)1Cwi/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

immune system

immune system phenotype ( J:333883 )

• no defects in T cell development in the thymus, spleen, or lymph nodes are dectected

• no alteration in cell viability, expression of cell surface activation markers, cell cycle progression, or cell size

abnormal CD4-positive T cell differentiation ( J:333883 )

• inhibited anti-inflammatory induced T regulatory cell differentiation in vitro

abnormal T-helper 17 cell differentiation ( J:333883 )

• enhanced differentiation in vitro

abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology ( J:333883 )

• inhibited anti-inflammatory induced T regulatory cell differentiation in vitro

increased susceptibility to experimental autoimmune encephalomyelitis ( J:333883 )

• increased inflammatory CD4+T cells and decreased FoxP3+CD4+T cells in the nervous system

hematopoietic system

abnormal CD4-positive T cell differentiation ( J:333883 )

• inhibited anti-inflammatory induced T regulatory cell differentiation in vitro

abnormal T-helper 17 cell differentiation ( J:333883 )

• enhanced differentiation in vitro

abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology ( J:333883 )

• inhibited anti-inflammatory induced T regulatory cell differentiation in vitro