Phenotypes associated with this allele

• Allele Symbol: Hap1^tm2Xjl
• Allele Name: targeted mutation 2, Xiao-Jiang Li
• Allele ID: MGI:4830316
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Hap1^tm2Xjl/Hap1^tm2Xjl Tg(CAG-cre/Esr1*)5Amc/0	involves: 129 * C57BL/6 * CBA	MGI:5691394
cn2	Hap1^tm2Xjl/Hap1^tm2Xjl Tg(HCRT-cre)1Stak/0	involves: 129 * C57BL/6 * DBA/1	MGI:4830318
cn3	Hap1^tm2Xjl/Hap1^tm2Xjl Tg(Camk2a-cre)159Kln/0	involves: 129S6/SvEvTac * BALB/c * C57BL/6	MGI:5695752

Genotype
MGI:5691394

cn1

• Allelic Composition: Hap1^tm2Xjl/Hap1^tm2Xjl; Tg(CAG-cre/Esr1*)5Amc/0
• Genetic Background: involves: 129 * C57BL/6 * CBA

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

behavior/neurological

decreased coping response ( J:224698 )

• mice treated with tamoxifen at early postnatal times (P1), but not at late postnatal times or as adults, show increased immobility in the forced swim test and in the tail suspension test

• mice treated with tamoxifen at P21 do not exhibit impaired hippocampal neurogenesis under normal conditions, however after repeated restraint stress, these mice show an increase in immobility compared to non-stressed mutants and stressed controls

decreased locomotor activity ( J:224698 )

• mice treated with tamoxifen at an early age exhibit lower locomotor activity as adults

nervous system

impaired neuron differentiation ( J:224698 )

• mice treated with tamoxifen at P1 show impaired neuronal differentiation in the hippocampus as indicated by a lower ratio of NeuN+/BrdU+ cells than in controls and a higher ratio of GFAP+/BrdU+ cells among BrdU+ cells

abnormal neuron proliferation ( J:224698 )

• a decrease in proliferating cells is seen in the hippocampal dentate gyrus when mice are treated with tamoxifen at P1, but not when mice are treated with tamoxifen at P21

cellular

impaired neuron differentiation ( J:224698 )

• mice treated with tamoxifen at P1 show impaired neuronal differentiation in the hippocampus as indicated by a lower ratio of NeuN+/BrdU+ cells than in controls and a higher ratio of GFAP+/BrdU+ cells among BrdU+ cells

abnormal neuron proliferation ( J:224698 )

• a decrease in proliferating cells is seen in the hippocampal dentate gyrus when mice are treated with tamoxifen at P1, but not when mice are treated with tamoxifen at P21

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
melancholic depression		DOID:1595	OMIM:608516	J:224698

Genotype
MGI:4830318

cn2

• Allelic Composition: Hap1^tm2Xjl/Hap1^tm2Xjl; Tg(HCRT-cre)1Stak/0
• Genetic Background: involves: 129 * C57BL/6 * DBA/1

Reduced body weight in Hap1^tm2Xjl/Hap1^tm2Xjl Tg(HCRT-cre)1Stak/0 mice

growth/size/body

decreased body weight ( J:163896 )

• the greatest differences are seen at the ages of 2?4 weeks

behavior/neurological

decreased food intake ( J:163896 )

• males and females consume 66 and 50%, respectively, of the food that control mice eat

• however, water consumption is normal

decreased locomotor activity ( J:163896 )

• show less activity than the control mice at night, with females showing a greater difference

• show less activity in response to fasting-induced metabolic stress

nervous system

abnormal hypothalamus morphology ( J:163896 )

abnormal neurite morphology ( J:163896 )

• orexin neurons of the brain display disrupted or fragmented neurites in the dorsomedial hypothalamic and lateral hypothalamic nuclei

Genotype
MGI:5695752

cn3

• Allelic Composition: Hap1^tm2Xjl/Hap1^tm2Xjl; Tg(Camk2a-cre)159Kln/0
• Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6

behavior/neurological

decreased coping response ( J:224698 )

• 2 month old mice show increased immobility in the forced swim test and in the tail suspension test

• mice treated with imipramine, a tricyclic antidepressant, show increased mobility in the forced swim test and the tail suspension test

anhedonia ( J:224698 )

• mice exhibit lower preference to 1% sucrose solution than controls, indicating anhedonia

abnormal motor coordination/balance ( J:224698 )

• mice perform better on the rotarod most likely due to smaller body size

cellular

abnormal neuron proliferation ( J:224698 )

• a decrease in proliferating cells is seen in the hippocampal dentate gyrus, indicating a decrease in postnatal neurogenesis

growth/size/body

decreased body weight ( J:224698 )

• mild decrease in body weight during postnatal life, however by 4 months of age, weight is similar to controls

nervous system

abnormal neuron proliferation ( J:224698 )

• a decrease in proliferating cells is seen in the hippocampal dentate gyrus, indicating a decrease in postnatal neurogenesis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
melancholic depression		DOID:1595	OMIM:608516	J:224698