Phenotypes associated with this allele

• Allele Symbol: Abl2^tm1Ajk
• Allele Name: targeted mutation 1, Anthony J Koleske
• Allele ID: MGI:2153719
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Abl2^tm1Ajk/Abl2^tm1Ajk	involves: 129S4/SvJae	MGI:3583884
hm2	Abl2^tm1Ajk/Abl2^tm1Ajk	involves: 129S4/SvJae * C57BL/6J	MGI:2653884
cn3	Abl1^tm2.1Goff/Abl1^tm2.1Goff Abl2^tm1Ajk/Abl2^tm1Ajk Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * C57BL/6J * SJL	MGI:4850044
cn4	Abl1^tm2.1Goff/Abl1^tm2.1Goff Abl2^tm1Ajk/Abl2^tm1Ajk Tg(Atoh1-cre)1Bfri/0	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6J * CBA	MGI:4850045
cn5	Abl1^tm1Ajk/Abl1^tm1Ajk Abl2^tm1Ajk/Abl2^tm1Ajk Tg(Nes-cre)1Kag/?	involves: 129S4/SvJae	MGI:3583883
cx6	Abl1^tm1Mlg/Abl1^tm1Mlg Abl2^tm1Ajk/Abl2^+	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J	MGI:2653892
cx7	Abl1^tm1Mlg/Abl1^+ Abl2^tm1Ajk/Abl2^tm1Ajk	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J	MGI:2653894
cx8	Abl1^tm1Mlg/Abl1^tm1Mlg Abl2^tm1Ajk/Abl2^tm1Ajk	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J	MGI:2653897

Genotype
MGI:3583884

hm1

• Allelic Composition: Abl2^tm1Ajk/Abl2^tm1Ajk
• Genetic Background: involves: 129S4/SvJae

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

nervous system

abnormal cerebral cortex pyramidal cell morphology ( J:99296 )

• smaller dendrite arbors resulting in more densely packed neurons in all layers of cortex in 6-8 weeks old mice

Genotype
MGI:2653884

hm2

• Allelic Composition: Abl2^tm1Ajk/Abl2^tm1Ajk
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

growth/size/body

decreased body weight ( J:51887 )

• pups weigh about 80% of wild-type at 3 weeks of age, however by 8 weeks of age, weight does not differ from wild-type

behavior/neurological

novel environmental response-related retropulsion ( J:51887 )

• at 5 weeks of age, some mutants show increased tendency for retropulsion (walking backward) when placed in an open test field, however they are as active as littermate controls

decreased aggression ( J:51887 )

• males display decreased aggression towards intruding mice

absent startle reflex ( J:51887 )

• most mutants are not startled by acoustic stimuli

decreased startle reflex ( J:51887 )

• the magnitude of the startle responses of the few mutants that respond to an acoustic stimuli is only about 30% of the magnitude of controls

• mutants respond only slightly less well than controls to tactile (air puff) startle stimuli

abnormal motor coordination/balance ( J:51887 )

• poor performance on rope climbing test

• however, mutants are not ataxic, do not exhibit altered gait, and they are able to remain upright when walking on a narrow suspended platform

impaired coordination ( J:51887 )

• mutants spend less time hanging from a wire bar cage lid than controls

reproductive system

reduced fertility ( J:51887 )

• mutants produce litters at a reduced frequency, however litter sizes are normal

Genotype
MGI:4850044

cn3

• Allelic Composition: Abl1^tm2.1Goff/Abl1^tm2.1Goff; Abl2^tm1Ajk/Abl2^tm1Ajk; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:166211 )

• recovered at a frequency (20.5%) slightly less than the expected Mendelian ratio at two weeks of age

nervous system

decreased cerebellar granule cell precursor proliferation ( J:166211 )

• reduced number of proliferating granule cell precursors (GCPs) in the secondary fissure in the posterior cerebellum at P8

• loss of proliferating GCPs is concentrated in areas where the basement membrane (BM) is disrupted

• normal proliferation of GCPs in the cerebella-derived culture

abnormal brain morphology ( J:166211 )

• scores of granule cell precursors (GCPs) abnormally protrude into the subarachnoid space between the midbrain and cerebellum at E17

• laminin-labeled basement membrane (BM) is fragmented at E15 and E17

• loss of the pial BM in the cerebellum starting from around P8

abnormal cerebellum morphology ( J:166211 )

• reduced anterior-posterior extent of the mutant adult cerebellum

• basic laminar structure of the anterior cerebellum, encompassing lobules I-V, is completely lost

abnormal cerebellar lobule formation ( J:166211 )

• obvious defects in the organization of anterior lobules I-V in P7 and P1 cerebella

reduced cerebellar foliation ( J:166211 )

• adjacent lobules, such as lobules VIII and IX, are fused

abnormal cerebellum white matter morphology ( J:166211 )

• patches of granule cells are randomly scattered throughout the white matter

abnormal cerebellar layer morphology ( J:166211 )

ectopic Bergmann glia cells ( J:166211 )

• abnormal Bergmann glial network correlates with breaches of the BM in the cerebellum at P8

• highly disorganized radial glial processes, with some of their endfeet protruding into the meninges in the mutant cerebellum at E15

ectopic Purkinje cell ( J:166211 )

• loosely aligned Purkinje cells, with some abnormally distributing at the cerebellar surface at P1

ectopic cerebellar granule cells ( J:166211 )

• GCPs ectopically embed within the cortex at P1

• ectopic granule cell differentiation near the broken BM at P8

• many granule cells ectopias at the cerebellar surface in the posterior regions of adult cerebella and along the fusion lines of adjacent lobules

• normal extent of migration of granule cells and granule cell-glia interactions at P10 before the loss of the BM

abnormal cerebellum fissure morphology ( J:166211 )

• decreased depth of the fissures

absent cerebellum fissure ( J:166211 )

• both the cerebellar vermis and the two lateral hemispheres lack clear fissures on the surface

absent cerebellar lobules ( J:166211 )

• disappearance of lobules IV and V in the anterior vermis

small cerebellum ( J:166211 )

• smaller cerebellum in adult mice

behavior/neurological

impaired coordination ( J:166211 )

• take approximately twice as long to cross the elevated balance beam

• dramatic increase in the number of foot slips

cellular

decreased cerebellar granule cell precursor proliferation ( J:166211 )

• reduced number of proliferating granule cell precursors (GCPs) in the secondary fissure in the posterior cerebellum at P8

• loss of proliferating GCPs is concentrated in areas where the basement membrane (BM) is disrupted

• normal proliferation of GCPs in the cerebella-derived culture

Genotype
MGI:4850045

cn4

• Allelic Composition: Abl1^tm2.1Goff/Abl1^tm2.1Goff; Abl2^tm1Ajk/Abl2^tm1Ajk; Tg(Atoh1-cre)1Bfri/0
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6J * CBA

nervous system

nervous system phenotype ( J:166211 )

N • normal cerebella

Genotype
MGI:3583883

cn5

• Allelic Composition: Abl1^tm1Ajk/Abl1^tm1Ajk; Abl2^tm1Ajk/Abl2^tm1Ajk; Tg(Nes-cre)1Kag/?
• Genetic Background: involves: 129S4/SvJae

mortality/aging

mortality/aging ( J:99296 )

N • only 35% of the expected Mendelian numbers are born

N • those that were born survived well into adulthood

nervous system

abnormal cerebral cortex pyramidal cell morphology ( J:99296 )

• smaller dendrite arbors resulting in more densely packed neurons in all layers of cortex in 6-8 weeks old mice

Genotype
MGI:2653892

cx6

• Allelic Composition: Abl1^tm1Mlg/Abl1^tm1Mlg; Abl2^tm1Ajk/Abl2⁺
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:51887 )

• mutants die between E15.5 and E16

cardiovascular system

hemopericardium ( J:51887 )

• seen in most mutants

pericardial edema ( J:51887 )

distended pericardium ( J:51887 )

• the pericardial sac of many mutants is enlarged and edematous

hemoperitoneum ( J:51887 )

• seen in most mutants

growth/size/body

abnormal peritoneum morphology ( J:51887 )

• the peritoneum of many mutants is enlarged and edematous

homeostasis/metabolism

hemopericardium ( J:51887 )

• seen in most mutants

edema ( J:51887 )

• peritoneum is edematous in many mutants

pericardial edema ( J:51887 )

Genotype
MGI:2653894

cx7

• Allelic Composition: Abl1^tm1Mlg/Abl1⁺; Abl2^tm1Ajk/Abl2^tm1Ajk
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J

mortality/aging

postnatal lethality, incomplete penetrance ( J:51887 )

• only 60% of the expected numbers of mutants are recovered postnatally

growth/size/body

decreased body size ( J:51887 )

• survivors are runted at birth, however they survive well into adulthood

Genotype
MGI:2653897

cx8

• Allelic Composition: Abl1^tm1Mlg/Abl1^tm1Mlg; Abl2^tm1Ajk/Abl2^tm1Ajk
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:51887 )

• die before E11

nervous system

abnormal neuron differentiation ( J:51887 )

• mutants exhibit delayed appearance of Map2-positive early neurons in the neuroepithelium

abnormal embryonic neuroepithelium morphology ( J:51887 )

• neuroepithelial cells show alterations in actin cytoskeleton

• the neuroepithelium collapses into the lumen of the neural tube at E10.25

delayed neural tube closure ( J:51887 )

• delay of neural tube closure is seen at E9.5, with the neural tube of most embryos closed by E10.25, although in some embryos, gaps remain at one or more fusion points in the head region

cellular

abnormal actin cytoskeleton morphology ( J:51887 )

• neuroepithelial cells show alterations in actin cytoskeleton

increased embryonic tissue cell apoptosis ( J:51887 )

• embryos from E10.5-E11 have massive numbers of apoptotic cells in all tissues of the body

abnormal neuron differentiation ( J:51887 )

• mutants exhibit delayed appearance of Map2-positive early neurons in the neuroepithelium

cardiovascular system

hemopericardium ( J:51887 )

embryo

increased embryonic tissue cell apoptosis ( J:51887 )

• embryos from E10.5-E11 have massive numbers of apoptotic cells in all tissues of the body

abnormal embryonic neuroepithelium morphology ( J:51887 )

• neuroepithelial cells show alterations in actin cytoskeleton

• the neuroepithelium collapses into the lumen of the neural tube at E10.25

delayed neural tube closure ( J:51887 )

• delay of neural tube closure is seen at E9.5, with the neural tube of most embryos closed by E10.25, although in some embryos, gaps remain at one or more fusion points in the head region

homeostasis/metabolism

hemopericardium ( J:51887 )