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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Chd2Gt(RRBO46)Byg
gene trap RRB046, BayGenomics
MGI:3800602
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Chd2Gt(RRBO46)Byg/Chd2Gt(RRBO46)Byg involves: 129P2/OlaHsd * C57BL/6 MGI:3838398
hm2
Chd2Gt(RRBO46)Byg/Chd2Gt(RRBO46)Byg involves: 129P2/OlaHsd * C57BL/6J MGI:5578001
ht3
Chd2Gt(RRBO46)Byg/Chd2+ involves: 129P2/OlaHsd * C57BL/6 MGI:3838399
ht4
Chd2Gt(RRBO46)Byg/Chd2+ involves: 129P2/OlaHsd * C57BL/6J MGI:5515353


Genotype
MGI:3838398
hm1
Allelic
Composition
Chd2Gt(RRBO46)Byg/Chd2Gt(RRBO46)Byg
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd2Gt(RRBO46)Byg mutation (0 available); any Chd2 mutation (189 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• while mice are present in Mendelian ratios at E18.5, no mice are observed at weaning

cellular
• X-ray exposed mouse embryonic fibroblasts exhibit a moderately higher increase in G1-S phase compared to similarly treated wild-type cells
• 25% of mouse embryonic fibroblasts (MEFs) exhibit numerous DNA breaks unlike wild-type MEFs
• treatment of MEFs with X-ray causes more DNA damage than in similarly treated wild-type MEFs that persists for longer than in wild-type MEFs

hematopoietic system
• clusters of hematopoietic cells are less organized compared to in wild-type mice
• mice exhibit impaired erythropoiesis with decreased expression of CD71 and CD117 but not Ter119 in fetal liver cells compared to in wild-type mice

cardiovascular system
• at E12.5

behavior/neurological
• loss of vitality

growth/size/body
• at E18.5 but not E16.5
• at E18.5, mice exhibit profound growth retardation compared to wild-type mice

homeostasis/metabolism
• 25% of mouse embryonic fibroblasts (MEFs) exhibit numerous DNA breaks unlike wild-type MEFs
• treatment of MEFs with X-ray causes more DNA damage than in similarly treated wild-type MEFs that persists for longer than in wild-type MEFs




Genotype
MGI:5578001
hm2
Allelic
Composition
Chd2Gt(RRBO46)Byg/Chd2Gt(RRBO46)Byg
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd2Gt(RRBO46)Byg mutation (0 available); any Chd2 mutation (189 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice are present at E14.5
• despite some mice present at P1, no mice are present at weaning

cardiovascular system
• mild to moderate in some neonates

growth/size/body
• neonates are runted

integument
• neonates are pale

vision/eye
• 2 of 15 mice exhibit defective eye formation and eye migration defects
• in some mice




Genotype
MGI:3838399
ht3
Allelic
Composition
Chd2Gt(RRBO46)Byg/Chd2+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd2Gt(RRBO46)Byg mutation (0 available); any Chd2 mutation (189 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• not all mice survive beyond weaning (J:146176)
• fewer than expected mice survive beyond weaning (J:146743)
• median lifespan of 52.3 weeks, most mice succumb to lymphomas by week 58, and all mice are dead by 100 weeks (J:146176)
• by 32 weeks of age 50% of mice die whereas all wild-type mice are alive (J:146743)
• by 64 weeks 94% of mice die whereas all wild-type mice are alive (J:146743)
• some mice do not survive beyond weaning (J:146176)
• fewer than expected mice survive the first 4 days after birth (J:146743)

cardiovascular system
• primarily involving the left ventricular free wall and septum
• primarily involving the left ventricular free wall and septum
• at E12.5
• artery inflammation
• in 57% of mice primarily involving the left ventricular free wall and septum

respiratory system
• 20% of mice exhibit lung alterations including interstitial pneumonia, alveolar hemorrhage, and alveolar edema
• as early as 16 weeks of age

liver/biliary system
• minimal to mild
• subacute
• nodular and discolored
• centrilobular and coagulative in 28% of mice

renal/urinary system
• mice exhibit nephropathy unlike wild-type mice
• 85% of mice exhibit bilateral glomerulopathy with global glomerular enlargement due to hypercellularity and increased matrix amount unlike in wild-type mice

homeostasis/metabolism
• minimal to mild

hematopoietic system
• in 67% of spleens due to an expansion of red pulp (J:146743)
• CD44 high CD4+ T cells are increased in mice with hyperplasia or lymphomas
• in spleens and lymph nodes
• due to increased erythroid and myeloid cells

behavior/neurological
• as early as 16 weeks of age

growth/size/body
• reduction in body size compared to wild-type mice at birth
• the reduction in body size compared to wild-type mice observed at birth is less pronounced at 3 to 4 months of age
• at 8 to 10 months of age

adipose tissue

immune system
• artery inflammation
• in 57% of mice primarily involving the left ventricular free wall and septum
• CD44 high CD4+ T cells are increased in mice with hyperplasia or lymphomas
• in spleens and lymph nodes
• due to increased erythroid and myeloid cells
• 3 mice exhibit generalized lymphadenopathy characterized by non-specific, reactive lymphoid hyperplasia unlike in wild-type mice
• most mice succumb to splenic, lymph node, and thymic lymphomas and lymphoid hyperplasias by week 58
• subacute

muscle
• primarily involving the left ventricular free wall and septum

skeleton
• at 8 to 10 months of age (J:146176)
• as early as 16 weeks of age (J:146743)
• at 8 to 10 months of age

neoplasm
• lymphomas are first observed at 26 weeks of age
• most mice succumb to splenic, lymph node, and thymic lymphomas and lymphoid hyperplasias by week 58

endocrine/exocrine glands
• minimal to mild

integument
• as early as 16 weeks of age, mice have scruffy coats unlike wild-type mice

cellular
• centrilobular and coagulative in 28% of mice




Genotype
MGI:5515353
ht4
Allelic
Composition
Chd2Gt(RRBO46)Byg/Chd2+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd2Gt(RRBO46)Byg mutation (0 available); any Chd2 mutation (189 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice are present at weaning

reproductive system
• cystic endometrial hyperplasia in 3 of 8 female mice
• cystic endometrial hyperplasia in 3 of 8 female mice

adipose tissue
• absent or extremely hypoplastic
• absent or extremely hypoplastic

cardiovascular system
• filling defects in the distal vasculature of the distal extremities
• mild to moderate in some neonates

growth/size/body
• cystic endometrial hyperplasia in 3 of 8 female mice

integument
• absent or extremely hypoplastic
• absent or extremely hypoplastic

renal/urinary system
• glomerulonephropathy in 15 of 32 adult mice
• however, neonatal mice exhibit normal renal histopathology

skeleton
• lordokyphosis at 4 months

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
CHARGE syndrome DOID:0050834 OMIM:214800
J:137079





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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory